citrulline has been researched along with Amino Acid Metabolism Disorders, Inborn in 261 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 175 (67.05) | 18.7374 |
| 1990's | 64 (24.52) | 18.2507 |
| 2000's | 15 (5.75) | 29.6817 |
| 2010's | 7 (2.68) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Artuch, R; Bodoy, S; Espino-Guarch, M; Ormazabal, A; Palacín, M; Sebastio, G; Sotillo, F; Sperandeo, MP; Zorzano, A | 1 |
| Chen, L; Chen, SL; Cui, D; Hu, YH; Liao, JX; Shen, D; Tang, G | 1 |
| Debray, FG; Drouin, R; Dubé, J; Fenyves, D; Laframboise, R; Lambert, M; Lemieux, B; Maranda, B; Mitchell, GA; Soucy, JF | 1 |
| Atkuri, KR; Cowan, TM; Enns, GM; Herzenberg, LA; Kwan, T; Ng, A | 1 |
| Dietzen, DJ; Shinawi, M; Sprietsma, L; Weymann, A; White, FV | 1 |
| Busanello, EN; Grings, M; Knebel, LA; Leipnitz, G; Lobato, VA; Moura, AP; Pettenuzzo, LF; Ritter, L; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M; Zanatta, A | 1 |
| Busanello, EN; Fernandes, CG; Leipnitz, G; Moura, AP; Seminotti, B; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A | 1 |
| Ko, JM; Park, SS; Seong, MW; Shin, CH; Song, J; Yang, SW | 1 |
| Azize, NA; Ch'ng, GS; Chen, BC; Habib, A; Hsu, HT; Md Yunus, Z; Ngu, LH; Ong, WP; Pitt, J; Wong, KJ | 1 |
| Aalto, M; Lukkarinen, M; Näntö-Salonen, K; Pulkki, K; Simell, O | 1 |
| FREYCON, F; FREYCON, MT | 1 |
| COFFEY, VP | 1 |
| EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D | 1 |
| MCMURRAY, WC; MOHYUDDIN, F; RATHBUN, JC | 2 |
| Bachmann, C | 2 |
| Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S | 1 |
| Baumgartner, MR; Dufier, JL; Kamoun, P; Nassogne, MC; Padovani, JP; Rabier, D; Saudubray, JM; Valle, D | 1 |
| Bachmann, C; Boulat, O; Carrozzo, R; Dionisi-Vici, C; Emma, F; Mannucci, L; Markert, M; Rizzoni, G | 1 |
| Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE | 1 |
| Huoponen, K; Näntö-Salonen, K; Niinikoski, H; Simell, O; Tanner, LM | 1 |
| Huoponen, K; Kotilainen, S; Näntö-Salonen, K; Niinikoski, H; Simell, O; Tanner, LM; Venetoklis, J | 1 |
| Abu-Amero, KK; Al-Dirbashi, OY; Al-Hassnan, ZN; Patay, Z; Rahbeeni, Z; Rashed, MS | 1 |
| Morrow, G | 1 |
| Brown, H; Diamond, R; Efron, ML; Moser, HW; Neumann, CG | 1 |
| Armstrong, MD; Robinow, M | 1 |
| Barness, LA; Efron, ML; Morrow, G | 1 |
| Perheentupa, J; Rajantie, J; Simell, O | 5 |
| Gray, RG; Hill, SE; Pollitt, RJ | 2 |
| Fowler, B; Galjaard, H; Kleijer, WJ; Thoomes, R; Wendel, U | 1 |
| Akaboshi, I; Endo, F; Matsuda, I; Saheki, T | 1 |
| Behbehani, AW; Gahr, M; Schröter, W | 1 |
| Benque, A; Bommelaer, G; Cales, P; Cathelineau, L; Pham Dinh, D; Ribet, A; Rozental, G | 1 |
| Davidson, JS; Harley, EH | 1 |
| Dyken, P; Hommes, FA; Kelloes, C; Metoki, K; Trefz, J | 1 |
| Hayasaka, S; Nomura, H; Ohmura, M; Takase, S; Yabata, K | 1 |
| Akaboshi, I; Matsuda, I; Origuchi, Y; Sakaguchi, M; Ushijima, T | 1 |
| Batshaw, ML | 1 |
| Blankenship, PR; Coryell, ME; Hommes, FA; Roesel, RA | 1 |
| Berghuis, M; Cats, BP; de Klerk, JB; Duran, M | 1 |
| Nakajima, H; Ogura, N; Ohtake, A; Takayanagi, M | 1 |
| Hayasaka, S; Kiyosawa, M; Nomura, H; Takase, S | 1 |
| Ban, M; Kato, T; Maehara, M; Mizutani, N; Watanabe, K | 1 |
| Barness, LA; Benford, SA; Foster, RC; Tedesco, TA | 1 |
| Saheki, T | 1 |
| Brandt, NJ; Christensen, E; Kennaway, NG; Philip, J | 1 |
| Ameen, M; Palmer, T | 1 |
| Perheentupa, J; Rajantie, J; Rapola, J; Simell, O | 1 |
| Hosoya, M; Katsunuma, T; Kusumi, K; Saheki, T; Takada, S; Tsuda, M; Ueda, A | 1 |
| Curtis, HC; Kennaway, NG | 1 |
| Herzfeld, A; Mandell, R; Shih, VE | 2 |
| Beaudet, AL; O'Brien, WE; Su, TS | 1 |
| Fleisher, LD; Harris, CJ; Mitchell, DA; Nadler, HL | 1 |
| Boué, J; Cathelineau, L; Kamoun, P; Parvy, P; Pham Dinh, D | 1 |
| Iizima, K; Katsunuma, T; Kobayashi, K; Saheki, T; Takahashi, K; Ueda, A; Yamada, N | 1 |
| Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L | 1 |
| Berger, R; Blom, W; Brubakk, AM; Teijema, LL | 1 |
| De Jonghe, P; Farriaux, JP; Martin, JJ | 1 |
| Guthrie, R; Naylor, EW; Sumlin, AB; Talbot, HW | 1 |
| Briand, P; Cathelineau, L; Kamoun, P; Pham Dinh, D | 2 |
| Canosa, C; Grisolia, S; Gutierez, F; Jordá, A; Nyhan, WL; Rubio, V | 1 |
| Hosoya, M; Katsunuma, T; Nakano, K; Saheki, T; Sase, M; Ueda, A | 1 |
| Katunuma, N; Matsuda, Y; Tsuji, A | 1 |
| Gordon, BA; Haust, MD | 1 |
| Gatfield, PD; Gordon, BA; Haust, MD | 1 |
| Bost, M; Favier, A; Frappat, P; Grandgeorges, D; Joannard, A; Plasse, M; Serre, JC | 1 |
| Batshaw, ML; Brusilow, SW; Thomas, GH | 1 |
| Carter, M; Donnel, GN; Koch, R; McLaren, J; Ng, WG; Oizumi, J; Shaw, KN | 1 |
| Boué, J; Jacoby, LB; Niermeijer, MF; Shih, VE; Struckmeyer, C | 1 |
| Boué, J; Cathelineau, L; Farriaux, JP; Kamoun, P; Pham Dinh, D; Saudubray, JM | 1 |
| Bachmann, C; Colombo, JP | 1 |
| Katsunuma, T; Kusumi, K; Saheki, T; Takada, S; Tsuda, M | 1 |
| Kobayashi, K; Nakata, M; Saheki, T; Shinsato, T; Terazono, H | 1 |
| Fukushige, T; Kakinoki, H; Kobayashi, K; Saheki, T; Shaheen, N; Terazono, H | 1 |
| Gray, RG; Green, A; Hall, S; McKeown, C | 1 |
| Kobayashi, K; Saheki, T; Shaheen, N; Terazono, H | 2 |
| Bébin, B; Candito, M; Chambon, P; Chazalette, JP; Ferraci, JP; Mathieu, M; Sebag, F; Vianey-Saban, C | 1 |
| Divry, P; Freycon, F; Freycon, MT; Gay, C; Teyssier, G; Tronchon, H | 1 |
| Beringer, A; Hubert, P; Jan, D; Jouvet, P; Laurent, J; Poggi, F; Rabier, D; Revillon, Y; Saudubray, JM | 1 |
| Beaudet, AL; Bradley, A; O'Brien, WE; Patejunas, G | 1 |
| Fukuda, K; Inui, Y; Ishiguro, H; Kakimoto, H; Kawata, S; Kono, N; Matsuzawa, Y; Namba, M; Tamura, S | 1 |
| Imamura, N; Mizuno, Y; Sato, T; Shiohama, N; Sugita, Y | 1 |
| Andersson, L; Dennis, J; Healy, P; Rawlinson, R | 1 |
| Dalal, J; Udani, S | 1 |
| Rodríguez-Soriano, J; Sanjurjo, P | 1 |
| Henry, BW; Lange, C; Matalon, R; Melnyk, AR; Zeller, WP | 1 |
| Demarquoy, J | 1 |
| Dewar, RA; Gatfield, DP; Gordon, BA; Haust, MD | 1 |
| Haust, MD | 1 |
| Chow, WC; Ng, HS; Tan, IK; Thum, TY | 1 |
| Aupetit, J; Bardet, J; Chadefaux-Vekemans, B; Gasquet, M; Kamoun, P; Merhand, E; Oury, JF; Parvy, P; Rabier, D | 1 |
| Golbus, MS; Laframboise, R; Mandell, R; Packman, S; Saudubray, JM; Schmidt, K; Shih, VE; Workman, L | 1 |
| Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB | 1 |
| Kakinoki, H; Kobayashi, K; Nagata, Y; Saheki, T; Terazono, H | 1 |
| Horiuchi, M; Kobayashi, K; Saheki, T | 1 |
| Kawata, A; Suda, M; Tanabe, H | 1 |
| Bonocore, G; Buonocore, G; Ciani, F; Donati, MA; Pasquini, E; Shih, VE; Zammarchi, E | 1 |
| Akatsu, T; Kawamoto, S; Kerlin, P; Kobayashi, K; Lynch, SV; Matsunami, H; Nakagawa, S; Saheki, T; Steadman, C; Strong, RW | 1 |
| Montejo, M; Ruiz, JI; Sanjurjo, P | 1 |
| Kobayashi, K; Saheki, T | 1 |
| Nagao, M; Oyanagi, K | 1 |
| Feillet, F; Leonard, JV | 1 |
| Alonso, EM; Boyle, JT; Emond, JC; Millis, JM; Molleston, JP; Rosenthal, P; Whitington, PF | 1 |
| Beaudet, AL; Dennis, JA; Frazer, M; Healy, PJ; Lee, B; Mull, B; O'Brien, WE; Patejunas, G; Reeds, PJ; Warman, AW; Yu, H | 1 |
| Su, TS; Tsai, TF; Wu, MJ | 1 |
| Aguilar-Cordova, E; Beaudet, AL; Dennis, JA; Healy, PJ; Lee, B; Mull, B; O'Brien, W; Pastore, L; Reeds, P; Yu, H | 1 |
| Almashanu, S; Biery, B; Camacho, JA; Casey, R; Goodman, BK; Hu, CA; Lambert, M; Mitchell, GA; Obie, C; Steel, G; Valle, D | 1 |
| Begum, L; Boright, AP; Crackower, MA; Hirano, R; Iijima, M; Ikeda, S; Kobayashi, K; Kondo, I; Lee, JR; Saheki, T; Scherer, SW; Sinasac, DS; Terazono, H; Tsui, LC; Yasuda, T | 1 |
| Couper, R; Coxon, R; Dorney, S; Fletcher, JM; Moore, D | 1 |
| Ichikawa, K; Kanatsu, K; Kohigashi, K; Koshiyama, H; Osafune, K; Sekikawa, A; Takeoka, H; Yasui, T | 1 |
| Inoue, S; Kawata, S; Kayanoki, Y; Kiso, S; Matsuzawa, Y; Tamura, S; Taniguchi, N; Yamasaki, E | 1 |
| Fukushige, T; Kobayashi, K; Li, MX; Nakajima, T; Saheki, T; Seiler, N | 1 |
| Celli, M; Crifò, C; D'Eufemia, P; Finocchiaro, R; Giardini, O; Salerno, C | 1 |
| Eto, Y; Kanazawa, N; Kira, J; Ohashi, T; Saito, T; Tsujino, S; Yamada, T | 1 |
| Almashanu, S; Aral, B; Baumgartner, MR; Hu, CA; Kamoun, P; Obie, C; Rabier, D; Saudubray, JM; Steel, G; Valle, D | 1 |
| Cederbaum, SD; Steiner, RD | 1 |
| Berry, GT; Steiner, RD | 1 |
| Passarge, E | 1 |
| Leibowitz, J; Nyhan, W; Spector, E; Thoene, J | 1 |
| Gatfield, PD; Haust, MD; Taller, E; Wolfe, DM | 1 |
| Gatfield, PD; Haust, MD | 1 |
| Burgess, EA; Oberholzer, VG; Semmens, JM; Stern, J | 1 |
| Fell, V; Pollitt, RJ | 1 |
| Kawamura, M | 1 |
| Hayashi, M; Katunuma, N; Matsuda, Y; Takahashi, Y; Tsuji, A | 1 |
| Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M | 1 |
| Gatfield, PD; Gordon, BA; Taller, E | 1 |
| Bloom, AD; Lockridge, O; Spector, EB | 2 |
| Batshaw, M; Brusilow, S; Robinson, B; Sherwood, G; Walser, M | 1 |
| Carritt, B | 1 |
| Coriell, LL; Greene, AE; Kennaway, N; Punnett, H; Spector, E | 1 |
| Nakao, T; Oyanagi, K; Sogawa, H | 1 |
| Hansen, S; MacLean, J; Perry, TL | 1 |
| Shih, VE | 1 |
| Nakao, T; Orii, T; Oyanagi, K; Sato, S; Sogawa, H | 1 |
| Matsui, T; Matsuoka, Y; Matsuyama, Y; Morita, T; Tamura, M; Tsujii, T | 1 |
| Nishi, N; Nishioka, N; Saito, Y; Suwa, N; Takahata, N | 1 |
| Blanckaert, D; Delecour, M; Dhondt, JL; Farriaux, JP; Fontaine, G; Monnier, JC; Pollitt, RJ; Richard, P; Vamos, E | 1 |
| Buist, NR; Harwood, PJ; Kennaway, NG; Koler, RD; Ramberg, DA | 1 |
| Awrich, AE; Cantrell, JE; Patterson, JH; Rudman, D; Stackhouse, WJ | 1 |
| Anakura, M; Arashima, S; Matsuda, I; Oka, Y; Saito, Y | 1 |
| Goto, I; Kobayashi, T; Shigeto, H; Yamada, T | 1 |
| Shimizu, H | 1 |
| Sperl, W | 1 |
| Arbour, JF; Dubé, J; Flessas, J; Laberge, M; Lafleur, L; Lambert, MA; Lemay, JF; Mitchell, GA; Valle, D; Vanasse, M | 1 |
| Laframboise, R; Mandell, R; Pichette, J; Shih, VE | 1 |
| Brochu, P; Jasmin, G; Lambert, MA; Qureshi, IA; Seidman, EG; Smith, L | 1 |
| Gerlo, E; Pardou, A; Vermeylen, D; Wayenberg, JL | 1 |
| Hirata, Y; Ishibashi, H; Kondo, H; Kudo, J; Nakashima, Y; Niho, Y; Shimamura, R; Tatsumoto, T; Toki, N; Yamamoto, K | 1 |
| Geiger, R; Maurer, H; Murr, C; Sailer, M; Schmoigl, C; Sperl, W; Steichen-Gersdorf, E | 1 |
| Kaneko, K; Miyatake, T; Ohno, T; Yanagisawa, K; Yuki, N | 1 |
| Huruta, S; Matsuo, K; Nishizawa, K; Nozawa, K; Sakai, H; Suzuki, Y; Wada, S; Yazaki, K | 1 |
| Ichiki, H; Kobayashi, K; Nukada, O; Saheki, T; Ubuka, S; Uchiyama, C; Yoda, T | 1 |
| Nielsen, JS; Thomsen, PD | 1 |
| Shindo, K; Shiozawa, Z; Tsunoda, S | 1 |
| Arranz, A; Rodríguez-Soriano, J; Rubio, V; Sanjurjo, P; Vallo, A | 1 |
| Beaudet, AL; Kobayashi, K; O'Brien, WE; Rosenbloom, C | 1 |
| Batshaw, ML; Berry, GT | 1 |
| Beaudet, AL; Northrup, H; O'Brien, WE | 1 |
| Lin, LH; Su, TS | 1 |
| Eto, Y; Maekawa, K; Shimizu, H | 1 |
| Gale, DS; Iafolla, AK; Roe, CR | 1 |
| Hayakawa, C; Kato, T; Mizutani, N; Sano, M | 2 |
| Kato, T; Mizutani, N; Sano, M | 1 |
| Botschner, J; Scriver, CR; Simell, O; Smith, DW | 1 |
| Ambani, LM; Apte, BN; Balsekar, MV; Bhatia, RS; Shah, SB | 1 |
| Aoyagi, Y; Ichida, F; Itoh, N; Kamimura, T; Mori, S; Muramatsu, K; Nomot, M; Ohno, T; Watanabe, T | 1 |
| Bartmann, P; Gortner, L; Leupold, D; Pohlandt, F | 1 |
| Dennis, JA; Harper, PA; Healy, PJ | 1 |
| Tuchman, M | 1 |
| Ben-Yoseph, Y; Mitchell, DA | 1 |
| Beaudet, AL; Dennis, JA; Healy, PJ; O'Brien, WE | 1 |
| Jinno, Y; Matsuda, I; Niikawa, N; Shimada, K | 1 |
| Bonnefont, JP; Chadefaux, B; Kamoun, P; Rabier, D; Saudubray, JM; Shih, VE | 1 |
| Alme, A; Broch, H; Gjessing, LR; Lie, SO; Lunde, HA; Undrum, T | 1 |
| Alvarez, L; Coude, FX; Fabregas, I; Fernandez Alvarez, E; Grimber, G; Pineda, M; Ribes, A; Rodes, M | 1 |
| Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G | 1 |
| Inoue, I; Kayanuma, K; Koike, R; Koura, M; Miyatake, T; Nakajima, M; Saheki, T; Takeshita, K; Uono, M; Yuasa, T | 1 |
| Matsuo, M; Matsuo, T; Nakamura, H; Saiki, K; Tanabe, J | 1 |
| Kurihara, T; Matsukura, S; Shioya, K; Yamamura, Y | 1 |
| Reavey, PC; Yadav, GC | 1 |
| de Parscau, L; Divry, P; Guibaud, P; Hermier, M; Vianey-Liaud, C | 1 |
| Dennis, JA; Harper, PA; Healy, PJ; Martin, AB | 1 |
| Ichiki, H; Kobayashi, K; Saheki, T | 1 |
| Hashida, S; Ichiki, H; Imamura, Y; Ishikawa, E; Kobayashi, K; Saheki, T; Yamashita, T | 1 |
| Inoue, I; Kobayashi, K; Saheki, T | 1 |
| Inoue, I; Kayanuma, K; Koike, R; Miyatake, T; Nakajima, M; Saheki, T; Sakoda, K; Takeshita, K; Uono, M; Yuasa, T | 1 |
| Batshaw, ML; Coyle, JT; Hyman, SL; Mellits, ED; Quaskey, S; Qureshi, IA; Robinson, MB | 1 |
| Akiyama, K; Hasegawa, T; Ishii, K; Iwata, M; Nakamura, K; Ogasawara, M; Takebe, T | 1 |
| Akiyoshi, H; Ichihara, K; Inoue, I; Ishii, S; Mito, T; Nakajima, M; Saheki, T; Takakura, H; Takashima, S; Takeshita, K | 1 |
| Hagihara, S; Inoue, I; Kobayashi, K; Matuo, S; Noda, T; Saheki, T | 1 |
| Hagihara, S; Ichiki, H; Imamura, Y; Inoue, I; Kobayashi, K; Matuo, S; Noda, T; Saheki, T; Tatsuno, M | 1 |
| Desgres, J; Gambert, P; Nivelon, JL; Nivelon-Chevallier, A; Petion, AM; Tenenbaum, D | 1 |
| Hagihara, S; Imamura, Y; Inoue, I; Jinno, Y; Kobayashi, K; Matuo, S; Noda, T; Nomiyama, H; Saheki, T; Shimada, K | 1 |
| Beaudet, AL; Chao, CY; Herman, GE; O'Brien, WE; Wood, PA | 1 |
| Beaudet, AL; Bock, HG; Freytag, SO; O'Brien, WE; Su, TS | 1 |
| Ichiki, H; Kobayashi, K; Nukada, O; Saheki, T; Tatsuno, M; Uchiyama, C; Yoda, T | 1 |
| Fujimori, K; Koike, R; Miyatake, T; Yuasa, T | 1 |
| Gatfield, DP; Gordon, BA; Haust, MD | 1 |
| Arai, M; Hiyamuta, E; Ikeda, M; Kurosawa, T; Orimo, S | 1 |
| Fujimori, K; Inoue, I; Koike, R; Miyatake, T; Saheki, T; Yuasa, T | 1 |
| Itakura, Y; Nakano, K; Nakao, T; Oyanagi, K; Saeki, T; Tsuchiyama, A | 1 |
| Dennis, JA; Harper, PA; Healy, PJ; O'Brien, JJ; Rayward, DH | 1 |
| Anast, CS; Carpenter, TO; Holtrop, ME; Levy, HL; Shih, VE | 1 |
| Hagihara, S; Imamura, Y; Itakura, Y; Kobayashi, K; Matuo, S; Nakano, K; Saheki, T; Sase, M | 1 |
| Brusilow, SW; Farmer, ER; Goldblum, OM; Maldonado, YA | 1 |
| Dyken, PR; Hartlage, PL; Hommes, FA; Metoki, K; Roesel, RA | 1 |
| Patel, HP; Unis, ME | 1 |
| Buist, NR; Engel, RC | 1 |
| Clow, CL; Mackenzie, S; Scriver, CR; Simell, O | 1 |
| Buist, NR; Curtis, HT; Kennaway, NG; Strandholm, JJ | 1 |
| Kohn, G; Mellman, WJ | 1 |
| Bloom, A; Spector, E; Streeter, S | 1 |
| Scott-Emuakpor, AB | 1 |
| Levin, B; Oberholzer, VG; Palmer, T | 2 |
| Cathelineau, L; Charpentier, C; Polonovski, C; Saudubray, JM | 1 |
| Brenton, DP; Cusworth, DC; Hartley, S; Kuzemko, JA; Lumley, S | 1 |
| Frimpter, GW | 1 |
| Carson, NA | 1 |
| Brechbühler, T; Colombo, JP; Signer, E; Wick, H | 1 |
| Pollitt, R; Wright, T | 1 |
| Cedrola, G; Guazzi, GC; Ragonese, G; Striano, S; Tancredi, F | 1 |
| Bloom, AD; Spector, EB | 1 |
| Gouw, WL; Hommes, FA; Huisjes, HJ; Luit-de Haan, G; Okken, A; Roerdink, FH; van der Blij, JF | 1 |
| Teijema, HL; van Gelderen, HH | 1 |
| Bachmann, C; Baumgartner, R; Brechbühler, T; Colombo, JP; Mihatsch, MJ; Ohnacker, H; Wick, H; Wiesmann, U | 1 |
| Carson, NA; Fellows, FC | 1 |
| Fell, V; Pollitt, RJ; Sampson, GA; Wright, T | 1 |
| Buist, NR; Hepburn, CA; Kennaway, NG; Ramberg, DA; Strandholm, JJ | 1 |
| Danks, DM | 1 |
| Danks, DM; Tippett, P; Zentner, G | 1 |
| Crane, CW; Jenner, FA; Pollitt, RJ | 1 |
| Menne, F | 1 |
| Levin, B | 1 |
| Donner, M; Simell, O; Visakorpi, JK | 1 |
| Jacoby, LB; Littlefield, JW; Milunsky, A; Shih, VE; Wilroy, RS | 1 |
| Bellinger, JF; Buist, NR | 1 |
| Hommes, FA; Monnens, LA; Schretlen, ED; Trijbels, JM; Van Der Zee, SP | 1 |
| Berry, HK | 1 |
| Schulman, JD; Shih, VE | 1 |
| Brechbühler, T; Girard, J; Wick, H | 1 |
| Badonnel, Y; Dautrevaux, M; Gelot, S; Levin, B; Neimann, N; Paysant, P; Pierson, M; Vidailhet, M | 1 |
| Carré, LJ; Carson, NA; Neill, DW; Scally, BG | 1 |
| Efron, ML; Moser, HW; Shih, VE | 1 |
| Carton, D; De Schrijver, F; Hooft, C | 1 |
| Dolan, TF; Nelligan, DJ; Shih, VE; Solitare, GB | 1 |
| Coryell, ME; Farrow, RT; Gatz, AJ; Hall, WK; Horton, BF; Looper, JW; Sisson, BD; Thevaos, TG; Welter, DA | 1 |
16 review(s) available for citrulline and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
[CITRULLINURIA].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Citrulline; Citrullinemia; Humans; Infant; Intellectual Disability; Kidney; Renal Aminoacidurias; Urologic Diseases | 1963 |
[Enzymatic analysis of citrullinemia in Japan].
Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Citrulline; Female; Humans; Liver; Male; Middle Aged; Rats; Sex Factors | 1982 |
[Citrullinemia: management and clinical course. Apropos of a familial case].
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Genes, Recessive; Humans; Infant; Male | 1993 |
[Argininosuccinate synthetase deficiency].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Diagnosis, Differential; Humans; Infant, Newborn; Polymerase Chain Reaction; Prognosis | 1998 |
[Hyperornithinemia-hyperammonemia-homocitrullinuria (H.H.H.) syndrome].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Diagnosis, Differential; Humans; Infant, Newborn; Ornithine; Ornithine-Oxo-Acid Transaminase; Syndrome | 1998 |
Alternative pathway therapy for urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Benzoates; Benzoic Acid; Child; Citrulline; Combined Modality Therapy; Female; Humans; Male; Nitrogen; Phenylacetates; Phenylbutyrates; Urea | 1998 |
Laboratory evaluation of urea cycle disorders.
Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Citrulline; DNA Mutational Analysis; Humans; Hyperammonemia; Orotic Acid; Urea | 2001 |
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Coagulation Disorders; Child, Preschool; Citrulline; Female; Humans; Liver Diseases; Liver Function Tests; Ornithine; Syndrome | 1992 |
[Adverse effects of branched chain amino acid transfusion on type-II citrullinemia--report of an adult case].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Argininosuccinate Synthase; Citrulline; Humans; Infusions, Intravenous; Liver; Male; Urea | 1991 |
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Female; Humans; Hyperargininemia; Ornithine Carbamoyltransferase Deficiency Disease; Pregnancy; Prenatal Diagnosis; RNA, Messenger; Urea | 1987 |
The human argininosuccinate synthetase locus and citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Lyase; Argininosuccinate Synthase; Chromosome Mapping; Citrulline; Cloning, Molecular; Diagnosis, Differential; DNA; Female; Gene Expression Regulation; Genes; Genetic Engineering; Humans; Infant, Newborn; Ligases; Mutation; Nucleic Acid Hybridization; Pregnancy; Prenatal Diagnosis; Prognosis | 1986 |
Aminoacidurias due to inherited disorders of metabolism. 2.
Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline; Dipeptides; Glutarates; Glycine; Histidine; Humans; Hydroxyproline; Hyperglycemia; Infant, Newborn; Keto Acids; Lysine; Malonates; Maple Syrup Urine Disease; Ornithine Carbamoyltransferase; Phosphotransferases; Proline; Sarcosine; Succinates; Urea; Valine | 1973 |
Metabolic errors in lysine degradation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Collagen; Electroencephalography; Female; Fibroblasts; Humans; Hydroxylysine; Lysine; Male; Oxidoreductases; Pipecolic Acids | 1974 |
Arginnosuccinic aciduria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Blood Urea Nitrogen; Child, Preschool; Citrulline; Humans; Intellectual Disability; Lyases; Rats; Succinates | 1967 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine | 1968 |
Hereditary metabolic disorders of the urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Aspartic Acid; Carbamates; Citrulline; Humans; Ligases; Liver; Lyases; Models, Chemical; Ornithine Carbamoyltransferase; Phosphotransferases; Succinates; Urea | 1971 |
245 other study(ies) available for citrulline and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Inducible
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Amino Acids; Animals; Citrulline; Disease Models, Animal; Hyperammonemia; Intestinal Mucosa; Kidney; Mice; Mice, Inbred C57BL; Mice, Knockout; Pulmonary Alveolar Proteinosis | 2019 |
[Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Child; Citrulline; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Mutation | 2019 |
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Child; Child, Preschool; Citrulline; Founder Effect; Homozygote; Humans; Hyperammonemia; Infant; Mutation; Ornithine; Phenotype; Syndrome | 2008 |
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Cells; Citrulline; Glutathione; Humans; Intracellular Space; Mitochondria; Mitochondrial Diseases; Protein Carbonylation; Reactive Oxygen Species | 2009 |
Early-onset hepatic fibrosis in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Child, Preschool; Citrulline; Fusion Regulatory Protein 1, Light Chains; Humans; Liver; Liver Cirrhosis; Lysine; Male; Mutation; Treatment Outcome | 2011 |
Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Animals, Newborn; Avoidance Learning; Behavior, Animal; Citrulline; Cognition; Developmental Disabilities; Disease Models, Animal; Half-Life; Learning Disabilities; Maze Learning; Memory; Memory, Long-Term; Ornithine; Postural Balance; Rats; Rats, Wistar; Thiobarbituric Acid Reactive Substances | 2012 |
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Antioxidants; Brain; Catalase; Citrulline; Glutathione Peroxidase; Homeostasis; Injections, Intraperitoneal; Injections, Intraventricular; Male; Nitric Oxide; Ornithine; Oxidation-Reduction; Oxidative Stress; Protein Carbonylation; Rats; Rats, Wistar; Sulfhydryl Compounds; Thiobarbituric Acid Reactive Substances; Urease | 2012 |
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Antifungal Agents; Asian People; Carnitine; Child, Preschool; Citrulline; Diet, Protein-Restricted; Disorders of Excessive Somnolence; Female; Fusion Regulatory Protein 1, Light Chains; Growth Disorders; Homozygote; Humans; Hypercalcemia; Metabolic Diseases; Mutation; Nephrocalcinosis; Republic of Korea; Sequence Analysis, DNA; Sodium Benzoate; Vitamin B Complex | 2012 |
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Biomarkers; Child, Preschool; Citrulline; Fusion Regulatory Protein 1, Light Chains; Genetic Markers; Genetic Testing; Humans; Malaysia; Male; Point Mutation | 2013 |
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance.
Topics: Absorption; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Humans; Intestinal Absorption; Kidney Tubules; Kinetics; Lysine; Male; Nitrogen; Ornithine; Reference Values; Urea | 2003 |
MENTAL RETARDATION AND THE INBORN ERRORS OF METABOLISM.
Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Fructose; Galactosemias; Histidine; Homocysteine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Vitamin B 6 Deficiency | 1964 |
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulline; Glycine; Histidine; Homocysteine; Humans; Hydroxyproline; Intellectual Disability; Maple Syrup Urine Disease; Metabolic Diseases; Phenylketonurias; Proline; Proteins; Renal Aminoacidurias; Urine | 1964 |
CITRULLINURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Citrullinemia; Clinical Enzyme Tests; Humans; Infant; Intellectual Disability; Ligases; Metabolism; Urea | 1964 |
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrulline; Diet; False Positive Reactions; Humans; Hyperammonemia; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Neonatal Screening; Retrospective Studies; Treatment Outcome; Urea | 2003 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arabs; Child, Preschool; Citrulline; DNA Mutational Analysis; Exons; Family Health; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Hyperammonemia; Lactic Acid; Male; Mitochondrial Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Polymerase Chain Reaction; Proteins | 2004 |
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cataract; Child; Child, Preschool; Citrulline; delta-1-Pyrroline-5-Carboxylate Reductase; Female; Humans; Hyperammonemia; Male; Mutation, Missense; Ornithine; Phenotype; Proline; Pyrroline Carboxylate Reductases | 2005 |
Increased NO production in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Cells, Cultured; Child; Citrulline; Fibroblasts; Fusion Regulatory Protein 1, Light Chains; Humans; Lysine; Nitrates; Nitric Oxide; Nitric Oxide Synthase; Nitric Oxide Synthase Type II; Nitrites | 2005 |
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Diagnosis, Differential; Female; Fibroblasts; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Neonatal Screening; Ornithine; Ornithine-Oxo-Acid Transaminase; Orotic Acid | 2005 |
Long-term oral lysine supplementation in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Calcium; Child; Child, Preschool; Chromatography, Ion Exchange; Citrulline; Dietary Supplements; Female; Finland; Humans; Long-Term Care; Lysine; Male; Middle Aged; Phosphates | 2007 |
Nutrient intake in lysinuric protein intolerance.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrulline; Diet, Protein-Restricted; Dietary Supplements; Energy Intake; Female; Finland; Humans; Infant; Lysine; Male; Malnutrition; Middle Aged; Nutrition Assessment; Nutrition Policy; Nutritional Status; Phenylbutyrates; Sodium Benzoate | 2007 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Citrulline; DNA Mutational Analysis; Female; Food, Formulated; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Saudi Arabia; Sodium Benzoate; Stroke | 2008 |
Studies on amino acid metabolism in citrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Blood Chemical Analysis; Caseins; Child; Citrulline; Diet Therapy; Humans; Infant; Intellectual Disability; Ligases; Male; Neomycin; Urea | 1967 |
Citrullinemia. A preliminary case report.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Blood Chemical Analysis; Citrulline; Diet Therapy; Female; Humans; Infant; Ligases; Pyridoxine; Triiodothyronine; Urea | 1967 |
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Chromatography, Paper; Citrulline; Electroencephalography; Electrophoresis; Female; Humans; Intellectual Disability; Male; Microchemistry; Succinates | 1967 |
A case of hyperlysinemia: biochemical and clinical observations.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Autoanalysis; Child, Preschool; Chromatography, Paper; Citrulline; Humans; Intellectual Disability; Lysine; Male; Ornithine | 1967 |
Citrullinemia with defective urea production.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Ligases; Liver; Seizures; Urea | 1967 |
Basolateral-membrane transport defect for lysine in lysinuric protein intolerance.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Biological Transport; Cell Membrane; Child; Child, Preschool; Citrulline; Female; Glycine; Humans; Infant; Intestinal Mucosa; Kidney; Liver; Lysine; Male | 1980 |
Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Aspartate Ammonia-Lyase; Cells, Cultured; Citrulline; Fibroblasts; Glutamates; Glutamic Acid; Humans; Lymphocyte Activation; Lymphocytes; Ornithine; Phytohemagglutinins; Proline | 1982 |
First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Chorionic Villi; Citrulline; Female; Humans; Malonates; Methylmalonic Acid; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis; Radioisotopes | 1984 |
Oral administration of urea cycle intermediates in lysinuric protein intolerance: effect on plasma and urinary arginine and ornithine.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Humans; Intestinal Absorption; Lysine; Ornithine; Urea | 1983 |
Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance.
Topics: Administration, Oral; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrulline; Female; Humans; Lysine; Male | 1983 |
"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Cell Membrane; Child; Citrulline; Female; Humans; Liver; Lysine; Male; Mitochondria, Liver; Ornithine | 1983 |
Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Hydrogen-Ion Concentration; Kinetics; Ligases; Liver; Male | 1983 |
[Lysinuric protein intolerance].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Consanguinity; Dietary Proteins; Female; Ferritins; Humans; Infant; L-Lactate Dehydrogenase; Lysine; Ornithine; Turkey | 1983 |
Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Cells, Cultured; Citrulline; Fibroblasts; Glutamine; Humans; Mitochondria; Ornithine; Proline; Proteins | 1983 |
Chronic vomiting in a case of citrullinaemia detected after treatment by total parenteral nutrition.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Chronic Disease; Citrulline; Female; Humans; Middle Aged; Parenteral Nutrition; Parenteral Nutrition, Total; Vomiting | 1984 |
Complementation between arginiosuccinate synthetase-deficient and argininosuccinate lyase-deficient fibroblasts depends on intercellular communication.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Cell Communication; Cell Line; Citrulline; Fibroblasts; Humans; Infant, Newborn | 1984 |
Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Genes, Recessive; Humans; Intracellular Membranes; Microscopy, Electron; Mitochondria; Ornithine; Skin | 1984 |
Treatment of congenital hyperammonemias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Humans; Metabolism, Inborn Errors; Nitrogen; Serotonin; Urea | 1984 |
Papilloedema in late-onset citrullinaemia: report of second case.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Angiography; Argininosuccinate Synthase; Citrulline; Humans; Liver; Male; Papilledema; Tomography, X-Ray Computed | 1984 |
Citrullinemia presenting as uncontrollable epilepsy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Citrulline; Electroencephalography; Epilepsy; Female; Humans | 1984 |
Hyperammonemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Brain Edema; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Diagnosis, Differential; Female; Humans; Hyperargininemia; Infant; Infant, Newborn; Leucine; Ornithine Carbamoyltransferase; Respiratory Distress Syndrome, Newborn; Urea | 1984 |
Gamma-glutamylornithine excretion in patients with hyperornithinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Choroid; Chromatography; Citrulline; Dipeptides; Humans; Ornithine; Retina; Retinal Diseases; Syndrome; Uveal Diseases | 1984 |
[A patient with neonatal citrullinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Benzoic Acid; Citrulline; Exchange Transfusion, Whole Blood; Humans; Infant, Newborn; Male | 1983 |
A case of transient neonatal citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Diagnosis, Differential; Dietary Proteins; Humans; Infant; Infant, Newborn; Male | 1983 |
Papilledema in late-onset citrullinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Citrulline; Female; Humans; Papilledema | 1984 |
Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance.
Topics: Administration, Oral; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Arginine; Child; Citrulline; Humans; Male | 1984 |
Free amino acids in Citrullus vulgaris (watermelon)
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Fruit; Humans | 1984 |
Citrullinaemia: the possibility of prenatal diagnosis.
Topics: Abortion, Therapeutic; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Argininosuccinate Synthase; Citrulline; Female; Humans; Infant, Newborn; Kidney; Liver; Male; Pregnancy; Prenatal Diagnosis | 1980 |
Enzyme inhibition as a possible cause of secondary increases in metabolite levels in patients with inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Ammonium Sulfate; Animals; Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Cattle; Citrulline; Ligases; Liver; Lyases; Lysine; Rats; Swine | 1980 |
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Complement C3; Female; Growth; Hemoglobins; Humans; Infant; Infant, Newborn; Lysine; Male; Serum Albumin | 1980 |
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Immunodiffusion; Kinetics; Ligases; Liver Diseases; Middle Aged | 1981 |
Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Citrulline; Fibroblasts; Genetic Complementation Test; Humans; Protein Biosynthesis; Skin | 1981 |
Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Humans; Ornithine; Pyrroline Carboxylate Reductases | 1981 |
Abnormal mRNA for argininosuccinate synthetase in citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Base Sequence; Cell Line; Citrulline; Genes; Heterozygote; Humans; Ligases; RNA Splicing; RNA, Messenger | 1983 |
Citrullinemia: prenatal diagnosis of an affected fetus.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Female; Humans; Ligases; Pregnancy; Prenatal Diagnosis | 1983 |
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Argininosuccinate Synthase; Citrulline; Clinical Enzyme Tests; Female; Humans; Pregnancy; Prenatal Diagnosis; Retrospective Studies | 1983 |
Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Female; Fibroblasts; Humans; Kinetics; Ligases; Liver; Male; Skin | 1982 |
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Fibroblasts; Humans; Models, Chemical; Ornithine; Proteins; Skin | 1982 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Infusions, Parenteral; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1982 |
Successful treatment of severe OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Benzoic Acid; Citrulline; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease | 1982 |
Neuropathology of citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Autopsy; Brain; Cerebral Cortex; Citrulline; Humans; Infant; Male; Neuroglia; Phagocytes | 1982 |
A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Aciduria; Blood Specimen Collection; Citric Acid Cycle; Citrulline; Humans; Infant, Newborn; Lyases; Mass Screening; Ornithine; Urea | 1982 |
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cells, Cultured; Citrulline; Fibroblasts; Genetic Complementation Test; Humans; Ligases; Lyases | 1982 |
Transient hyperammonemias in infants with and without organic acidemia.
Topics: Acetyltransferases; Amino Acid Metabolism, Inborn Errors; Amino-Acid N-Acetyltransferase; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Time Factors; Urea | 1982 |
Enzymatic analysis of citrullinemia (12 cases) in Japan.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Brain; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Female; Fibroblasts; Humans; Kidney; Ligases; Liver; Male; Middle Aged; Ornithine Carbamoyltransferase; Urea | 1982 |
Qualitative abnormality of liver argininosuccinate synthetase in a patient with citrullinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginase; Argininosuccinate Lyase; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Centrifugation, Density Gradient; Citrulline; Female; Humans; Ligases; Liver; Ornithine Carbamoyltransferase; Urea | 1982 |
Lysinuric protein intolerance. Basolateral transport defect in renal tubuli.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Diamino; Biological Transport; Child; Citrulline; Female; Humans; Kidney Tubules; Male | 1981 |
Ultrastructural changes in the mitochondria in disorders in ornithine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1980 |
Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrulline; Humans; Male; Microscopy, Electron; Mitochondria, Liver; Ornithine | 1981 |
[Severe neonatal type of citrullinemia. Difficulties to expose heterozygotic state. Advantage of prenatal diagnosis (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Genetic Carrier Screening; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Prenatal Diagnosis | 1980 |
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Cell Line; Citrulline; Female; Fibroblasts; Genetic Complementation Test; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ligases; Lyases; Male; Polyethylene Glycols | 1981 |
New approaches to the diagnosis and treatment of inborn errors or urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Acid; Citrulline; Glutamine; Hippurates; Humans; Infant; Infant, Newborn; Phenylacetates; Urea | 1981 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree; Pregnancy; Prenatal Diagnosis; Urea | 1981 |
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Female; Humans; Ligases; Pregnancy; Prenatal Diagnosis | 1981 |
Improved method for the antenatal diagnosis of citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Argininosuccinate Synthase; Carbon Radioisotopes; Citrulline; Female; Fibroblasts; Humans; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis; Tritium | 1981 |
Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Orotic Acid | 1980 |
Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat and argininosuccinate synthetase-associated metabolic disorder in man.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Animals; Argininosuccinate Synthase; Citrulline; Dietary Proteins; Female; Glutamates; Humans; Ligases; Liver; Male; Middle Aged; Ornithine; Rats; Urea | 1980 |
Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Base Sequence; Blotting, Northern; Citrulline; DNA Primers; Gene Expression; Humans; Liver; Molecular Sequence Data; RNA, Messenger; Trypsin Inhibitor, Kazal Pancreatic | 1995 |
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Base Sequence; Citrulline; Humans; Japan; Molecular Sequence Data; Mutation; Polymerase Chain Reaction | 1995 |
Prenatal exclusion of the HHH syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Amniotic Fluid; Cells, Cultured; Citrulline; Female; Humans; Ornithine; Pregnancy; Prenatal Diagnosis; Syndrome | 1995 |
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Base Sequence; Citrulline; Humans; Japan; Molecular Sequence Data; Point Mutation; RNA, Messenger | 1995 |
Lysinuric protein intolerance. Urinary amino acid excretion at 2 and 9 days of age.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Citrulline; Humans; Infant, Newborn; Lysine; Male; Ornithine | 1994 |
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Argininosuccinate Synthase; Base Sequence; Citrulline; DNA, Complementary; Female; Humans; Infant; Infant, Newborn; Japan; Molecular Sequence Data; Mutagenesis, Insertional; Mutation; RNA, Messenger | 1994 |
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Child; Citrulline; Humans; Liver Transplantation; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1994 |
Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Disease Models, Animal; Heterozygote; Homozygote; Mice; Mice, Inbred BALB C; Mice, Mutant Strains; Plasmids; Recombination, Genetic; Stem Cells | 1994 |
Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Glucagon; Humans; Male; Urea | 1994 |
[Type II citrullinemia triggered by acetaminophen].
Topics: Acetaminophen; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Male | 1993 |
Prenatal diagnosis of bovine citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Animals; Argininosuccinate Synthase; Cattle; Cattle Diseases; Cells, Cultured; Citrulline; DNA; Female; Fetal Diseases; Heterozygote; Homozygote; Leukocytes; Pregnancy; Prenatal Diagnosis | 1993 |
Citrullinemia and transposition of the great arteries.
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Female; Humans; Infant, Newborn; Transposition of Great Vessels | 1993 |
Management of neonatal citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Humans; Infant, Newborn | 1993 |
Prospective management of a child with neonatal citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Child Development; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Phenylacetates | 1993 |
Retroviral-mediated gene therapy for the treatment of citrullinemia. Transfer and expression of argininosuccinate synthetase in human hematopoietic cells.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Bone Marrow; Bone Marrow Cells; Bone Marrow Transplantation; Cells, Cultured; Citrulline; Fibroblasts; Genetic Therapy; Humans; Retroviridae; Transfection | 1993 |
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Child; Citrulline; Female; Fibroblasts; Humans; Male; Mitochondria; Ornithine; Skin; Syndrome | 1996 |
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Cells, Cultured; Cilia; Citrulline; Endoplasmic Reticulum, Rough; Fibroblasts; Humans; Microscopy, Electron; Mitochondria; Ornithine; Skin; Syndrome; Urea | 1995 |
Case report: recurrent hyperammonaemic encephalopathy due to citrullinaemia in a 52 year old man.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; China; Citrulline; Hepatic Encephalopathy; Humans; Male; Middle Aged; Recurrence; Singapore | 1996 |
Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Amniotic Fluid; Argininosuccinic Acid; Chromatography, Ion Exchange; Citrulline; Female; Gestational Age; Humans; Ornithine; Oxidoreductases Acting on Sulfur Group Donors; Pregnancy; Prenatal Diagnosis; Reference Values; Vitamin B 12 | 1996 |
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Argininosuccinate Lyase; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carbon Radioisotopes; Cells, Cultured; Chorionic Villi; Chorionic Villi Sampling; Citrulline; Female; Fetal Diseases; Fibroblasts; Humans; Infant; Infant, Newborn; Pregnancy; Pregnancy Trimester, Second; Renal Aminoacidurias; Tritium | 1996 |
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Glutamine; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree | 1996 |
Mutations and DNA diagnoses of classical citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Asian People; Blotting, Southern; Citrulline; DNA; DNA Mutational Analysis; DNA Restriction Enzymes; Exons; Female; Genetic Testing; Heterozygote; Humans; Infant; Mutation; Polymerase Chain Reaction; Pregnancy; RNA, Messenger | 1997 |
Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Biomarkers; Citrulline; Female; Humans; Male; Middle Aged; Trypsin Inhibitor, Kazal Pancreatic | 1997 |
Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Liver Transplantation; Magnetic Resonance Imaging; Male; Tomography, X-Ray Computed; Trypsin Inhibitor, Kazal Pancreatic | 1997 |
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Citrulline; Diet, Protein-Restricted; Humans; Infant, Newborn; Male; Ornithine | 1997 |
Orthotopic liver transplantation for adult-onset type II citrullinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Arginine; Argininosuccinate Synthase; Brain Edema; Cause of Death; Citrulline; Diet, Protein-Restricted; Disease Progression; Fatal Outcome; Glutamic Acid; Hepatic Encephalopathy; Humans; Immunohistochemistry; Liver; Liver Transplantation; Male; Prognosis; Referral and Consultation | 1997 |
Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids.
Topics: alpha-Linolenic Acid; Amino Acid Metabolism, Inborn Errors; Arachidonic Acid; Child; Child, Preschool; Citrulline; Diet, Protein-Restricted; Docosahexaenoic Acids; Fatty Acids, Monounsaturated; Fatty Acids, Unsaturated; Humans; Infant; Infant, Newborn; Linoleic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Myristic Acid; Ornithine Carbamoyltransferase Deficiency Disease; Phospholipids | 1997 |
Proceedings of a satellite meeting on advances in inherited urea cycle disorders. Vienna, 20-21 May 1997.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Genetic Therapy; Genome, Human; Humans; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1998 |
Liver transplantation for the treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Canada; Carbamoyl-Phosphate Synthase (Ammonia); Child; Citrulline; Communication Disorders; Female; Graft Rejection; Humans; Intellectual Disability; Liver Transplantation; Male; Microcephaly; Ornithine Carbamoyltransferase Deficiency Disease; Treatment Outcome; United States; Urea | 1998 |
Evaluation of gene therapy for citrullinaemia using murine and bovine models.
Topics: Adenoviruses, Human; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Arginine; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Cattle; Citrulline; Disease Models, Animal; Evaluation Studies as Topic; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Liver; Mice; Nitrogen; Treatment Outcome; Urea | 1998 |
Usage of cryptic splice sites in citrullinemia fibroblasts suggests role of polyadenylation in splice-site selection during terminal exon definition.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Fibroblasts; Humans; RNA Precursors; RNA Splicing; RNA, Messenger | 1998 |
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.
Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Animals, Newborn; Argininosuccinate Synthase; Cattle; Cell Transplantation; Citrulline; Female; Genetic Therapy; Genetic Vectors; Glutamine; Heterozygote; Humans; Liver; Male | 1999 |
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Amino Acid Transport Systems, Basic; Ammonia; Animals; Canada; Carrier Proteins; Chromosome Mapping; Chromosomes, Human, Pair 13; Citrulline; Female; France; Genetic Carrier Screening; Humans; Karyotyping; Male; Membrane Transport Proteins; Mice; Mitochondria; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Neurospora crassa; Ornithine; Point Mutation; Saccharomyces cerevisiae; Sequence Alignment; Sequence Deletion; Sequence Homology, Amino Acid; Skin; Syndrome; Transfection | 1999 |
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Argininosuccinate Synthase; Brain Edema; Caenorhabditis elegans; Calcium-Binding Proteins; Chromosome Mapping; Chromosomes, Human, Pair 9; Citrulline; Consanguinity; Conserved Sequence; Female; Genes, Recessive; Genetic Markers; Humans; Infant; Infant, Newborn; Male; Membrane Transport Proteins; Mitochondria, Liver; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Models, Molecular; Molecular Sequence Data; Mutation; Protein Structure, Secondary; Sequence Alignment; Sequence Homology, Amino Acid; Syndrome; Transcription, Genetic; Urea | 1999 |
Liver transplantation for citrullinaemia improves intellectual function.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Child; Citrulline; Humans; Intelligence; Liver Transplantation; Male; Psychometrics; Quaternary Ammonium Compounds | 1999 |
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Amino Acids; Argininosuccinate Synthase; Citrulline; Humans; Liver; Magnetic Resonance Imaging; Male; Middle Aged | 1999 |
Reduced nitric oxide production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antithrombin III; Arginine; Blood Coagulation Disorders; Citrulline; Cyclic GMP; Humans; Lysine; Male; Nitric Oxide; Nitroglycerin; Ornithine; Peptide Hydrolases; Platelet Aggregation; Thrombosis | 1999 |
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Enzyme Inhibitors; Injections, Intraperitoneal; Liver; Male; Mice; Mice, Transgenic; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Perfusion; Urea | 1999 |
Determination of urinary orotic acid and uracil by capillary zone electrophoresis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Borates; Buffers; Citrulline; Dietary Proteins; Electrophoresis, Capillary; Humans; Hydrogen-Ion Concentration; Infant; Male; Ornithine; Orotic Acid; Syndrome; Uracil | 1999 |
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ammonia; Asian People; Biological Transport; Carrier Proteins; Citrulline; DNA Mutational Analysis; Exons; Humans; Japan; Mitochondria; Molecular Sequence Data; Mutation; Ornithine; Reverse Transcriptase Polymerase Chain Reaction; Syndrome | 2000 |
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Catalytic Domain; Child; CHO Cells; Citrulline; Cricetinae; DNA Mutational Analysis; Female; Fibroblasts; France; Humans; Hyperammonemia; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; RNA, Messenger; Transfection | 2000 |
Long-term management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Dietary Proteins; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Urea | 2001 |
Letter: Genetic disorders in gypsies.
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Ethnicity; Female; Germany, West; Humans; Infant, Newborn; Pregnancy | 1975 |
Citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Autopsy; Basal Ganglia; Brain; Cerebral Cortex; Citrulline; Female; Humans; Infant; Infant, Newborn; Liver; Male; Pons; Ribs | 1978 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biopsy; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Citrulline; Dietary Proteins; Female; Humans; Leukocytes; Liver; Lysine; Male; Microscopy, Electron; Mitochondria, Liver; Ornithine; Phosphotransferases | 1975 |
Proceedings: Hepatic ultrastructure in a child with carbamyl phosphate synthetase deficiency, hyperornithinaemia, hyperammonaemia, and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Citrulline; Humans; Liver; Male; Ornithine; Phosphotransferases | 1975 |
Acute neonatal and benign citrullinaemia in one sibship.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Argininosuccinate Synthase; Child; Citrulline; Female; Humans; Infant, Newborn; Male | 1978 |
3-Aminopiperid-2-one, an unusual metabolite in the urine of a patient with hyperammonaemia, hyperornithinaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chromatography, Gas; Chromatography, Ion Exchange; Citrulline; Electrophoresis; Humans; Mass Spectrometry; Ornithine; Piperidines; Piperidones | 1978 |
[Citrullinemia and argininosuccinic aciduria].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Citrulline; Humans; Infant; Infant, Newborn; Male | 1978 |
Studies on liver argininosuccinate synthetase in a patient with citrullinemia and in normal subjects.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Argininosuccinate Synthase; Citrulline; Cytosol; Female; Humans; Kinetics; Ligases; Liver; Urea | 1979 |
Neonatal citrllinemia: treatment with keto-analogues of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Arginine; Argininosuccinate Synthase; Citrulline; Fibroblasts; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Lysine; Male; Methionine; Phenylalanine; Threonine; Tryptophan; Valine | 1977 |
Ornithine methyl ester. An unusual metabolite encountered in the urine of patients with a urea cycle disorder characterized by hyperammonemia, hyperornithinemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Chromatography; Citrulline; Dansyl Compounds; Humans; Ornithine | 1977 |
Argininosuccinate synthetase activity in cultured human lymphocytes.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Genetic Variation; Humans; Kinetics; Ligases; Lymphocytes | 1977 |
Nitrogen metabolism in neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Nitrogen; Ornithine; Urea | 1977 |
Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9.
Topics: Adenylate Kinase; Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Cell Line; Chromosomes, Human, 6-12 and X; Citrulline; Clone Cells; Cricetinae; Genes; Humans; Hybrid Cells; Ligases | 1977 |
Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Fibroblasts; Humans; Infant; Ligases; Male | 1977 |
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Argininosuccinate Synthase; Citrulline; Humans; Hyperargininemia; Intellectual Disability; Ligases; Liver; Lysine; Male | 1977 |
Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Epilepsy; False Positive Reactions; Female; Glutamine; Humans; Infant; Male; Middle Aged; Ornithine; Phenobarbital; Primidone; Urea | 1976 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Diagnosis, Differential; Humans; Hyperargininemia; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Syndrome; Urea | 1976 |
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Anorexia; Arginase; Arginine; Citrulline; Erythrocytes; Growth Disorders; Humans; Intellectual Disability; Lysine; Male | 1976 |
Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chronic Disease; Citrulline; Female; Hepatic Encephalopathy; Humans; Infant, Newborn; Male; Middle Aged; Pedigree | 1976 |
[Hepato-cerebral diseases caused by abnormal amino acid metabolism ---clinical observation in 3 cases of citrullinemia].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Citrulline; Electroencephalography; Female; Humans; Intellectual Disability; Liver Diseases | 1976 |
[Attempt at antenatal diagnosis of argininosuccinic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniotic Fluid; Argininosuccinic Acid; Argininosuccinic Aciduria; Citrulline; Female; Humans; Lyases; Pregnancy; Prenatal Diagnosis | 1976 |
Citrullinemia: enzymatic evidence for genetic heterogeneity.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Citrulline; Disease Models, Animal; Female; Fibroblasts; Heterozygote; Kinetics; L-Lactate Dehydrogenase; Ligases; Lymphocytes; Male; Phosphogluconate Dehydrogenase; Skin | 1975 |
Citrulline metabolism in normal and citrullinemic human lymphocyte lines.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Cell Line; Citrulline; Genes; Genetic Variation; Humans; Kinetics; Lymphocytes; Mutation; Urea | 1975 |
Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: Treatment with arginine, lysine, and citrulline.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child; Citrulline; Female; Growth Disorders; Humans; Lysine | 1975 |
A variant form of citrullinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Humans; Liver | 1976 |
[A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electromyography; Humans; Leg; Male; Muscular Atrophy; Ornithine; Paraparesis, Tropical Spastic; Spinal Cord; Syndrome | 1992 |
[The dibasic amino acid metabolic disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hyperargininemia; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Renal Dialysis | 1992 |
Outcome of neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Infant; Infant, Newborn; Treatment Outcome | 1992 |
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Citrulline; Eye Diseases; Female; Humans; Male; Nervous System Diseases; Neuropsychological Tests; Ornithine; Psychomotor Performance | 1992 |
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Female; Gestational Age; Hepatitis B Surface Antigens; Humans; Hyaline Membrane Disease; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine-Oxo-Acid Transaminase; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Syndrome | 1992 |
Increased intracranial pressure in a neonate with citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Brain; Citrulline; Female; Humans; Infant, Newborn; Intracranial Pressure; Orotic Acid; Tomography, X-Ray Computed | 1992 |
[An autopsy case of citrullinemia type II complicated with chronic pancreatitis].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chronic Disease; Citrulline; Female; Humans; Pancreatitis | 1992 |
Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Coma; Hemofiltration; Humans; Infant, Newborn; Male | 1992 |
[The correlation of consciousness level and the concentration of CSF ammonia in a patient with adult-type citrullinemia].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Astrocytes; Circadian Rhythm; Citrulline; Consciousness; Glutamine; Humans; Hydrocortisone; Male; Receptors, Glucocorticoid | 1991 |
[A case of citrullinemia with fair response to oral administration of sodium benzoate for consciousness disturbance].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Citrulline; Hepatic Encephalopathy; Humans; Male | 1991 |
A case of citrullinemia with abnormal messenger RNA for argininosuccinate synthetase.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Humans; Infant, Newborn; Male; Pedigree; RNA, Messenger | 1991 |
PCR screening for carriers of hereditary citrullinaemia in Danish Holstein-Friesian bulls.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Base Sequence; Cattle; Cattle Diseases; Citrulline; DNA; Genetic Carrier Screening; Male; Molecular Sequence Data; Polymerase Chain Reaction | 1991 |
Neonatal citrullinaemia with satisfactory mental development.
Topics: Amino Acid Metabolism, Inborn Errors; Child Development; Child, Preschool; Citrulline; Humans; Infant, Newborn; Intelligence | 1991 |
Additional mutations in argininosuccinate synthetase causing citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Base Sequence; Cattle; Cell Line; Citrulline; DNA; DNA Mutational Analysis; Humans; Kinetics; Molecular Sequence Data; Sequence Homology, Nucleic Acid; Species Specificity | 1991 |
Use of citrulline as a diagnostic marker in the prospective treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biomarkers; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Humans; Infant, Newborn; Male; Urea | 1991 |
Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Argininosuccinate Lyase; Argininosuccinate Synthase; Cells, Cultured; Chorionic Villi; Chorionic Villi Sampling; Citrulline; DNA; Female; Fibroblasts; Humans; In Vitro Techniques; Pedigree; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Skin | 1990 |
Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Base Sequence; Cell Line; Citrulline; DNA; Exons; Fibroblasts; Humans; Introns; Molecular Sequence Data; Mutation; Nucleic Acid Hybridization; Repetitive Sequences, Nucleic Acid; Restriction Mapping; RNA Splicing; RNA, Messenger | 1990 |
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria).
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biogenic Polyamines; Citrulline; Diet; Humans; Male; Ornithine; Syndrome | 1990 |
Citrate therapy in argininosuccinate lyase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Aspartic Acid; Child; Citrates; Citric Acid; Citrulline; Female; Humans; Infant; Lyases | 1990 |
Homocitrullinuria and homoargininuria in hyperargininaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Homoarginine; Humans; Lysine; Male | 1988 |
Homocitrullinuria and homoargininuria in lysinuric protein intolerance.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Citrulline; Female; Homoarginine; Humans; Kidney; Lysine; Male; Ornithine | 1989 |
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Fibroblasts; Heterozygote; Homozygote; Humans; Lysine; Ornithine; Ornithine-Oxo-Acid Transaminase; Oxidation-Reduction; Proteins; Syndrome | 1989 |
Citrullinemia: early diagnosis & successful management of an otherwise lethal disorder.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Citrulline; Female; Humans; India; Infant, Newborn | 1989 |
[A case of argininosuccinate synthetase (ASS) deficiency diagnosed by the measurement of ASS with the liver biopsy specimen].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopsy; Citrulline; Humans; Liver; Male | 1989 |
Peritoneal dialysis in the treatment of metabolic crises caused by inherited disorders of organic and amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Creatinine; Female; Humans; Infant, Newborn; Male; Maple Syrup Urine Disease; Peritoneal Dialysis; Propionates; Tyrosine | 1989 |
Animal model of human disease. Citrullinemia (argininosuccinate synthetase deficiency).
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Cattle Diseases; Citrulline; Disease Models, Animal | 1989 |
Persistent acitrullinemia after liver transplantation for carbamylphosphate synthetase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Humans; Infant; Liver Transplantation; Male | 1989 |
Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Cells, Cultured; Child, Preschool; Citrulline; Fibroblasts; Humans; Infant, Newborn; Kinetics; Ligases; Mutation; Skin | 1989 |
Molecular definition of bovine argininosuccinate synthetase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Argininosuccinate Synthase; Base Sequence; Cattle; Cattle Diseases; Citrulline; Cloning, Molecular; DNA; Humans; Ligases; Molecular Sequence Data; Monocytes; Mutation; Polymerase Chain Reaction; Sequence Homology, Nucleic Acid | 1989 |
Restriction fragment length polymorphisms in the 5' end region of the human argininosuccinate synthetase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; DNA; Humans; Ligases; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length | 1986 |
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Chorionic Villi Sampling; Citrulline; Female; Humans; Ornithine; Pregnancy; Pregnancy Trimester, First; Prenatal Diagnosis | 1989 |
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Glutamine; Humans; Infant; Male; Ornithine; Pyrimidines | 1986 |
A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Female; Humans; Male; Ornithine; Syndrome | 1987 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Female; Humans; Lysine; Male; Ornithine; Orotic Acid; Syndrome | 1987 |
Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Kinetics; Mitochondria, Liver; Ornithine | 1987 |
Citrullinaemia: an infantile form with p-hydroxyphenylpyruvic and p-hydroxyphenyllactic acidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Benzoates; Benzoic Acid; Citrulline; Female; Humans; Infant; Phenylpropionates; Phenylpyruvic Acids; Tyrosine | 1987 |
Increased urinary excretion of putrescine in hyperargininaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Cystinuria; Humans; Male; Ornithine; Putrescine | 1987 |
[A case of combined lysinuric protein intolerance and hypoactivity of argininosuccinate synthetase (citrullinemia)].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ammonium Chloride; Citrulline; Female; Humans; Lysine; Renal Tubular Transport, Inborn Errors | 1988 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1988 |
[Protein intolerance with lysinuria. Value of orotic aciduria in adjusting treatment with citrulline].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Diamino; Ammonia; Biological Transport; Cell Membrane; Citrulline; Consanguinity; Dietary Proteins; Humans; Lysine; Male; Orotic Acid; Osteoporosis | 1988 |
Ultrastructural findings in citrullinaemia in Holstein-Friesian calves.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Cattle; Cattle Diseases; Citrulline; Liver; Microscopy, Electron | 1988 |
[Citrullinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Ligases; RNA, Messenger | 1988 |
Clinical application of enzyme immunoassay in the analysis of citrullinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Immunoenzyme Techniques; Infant, Newborn; Ligases; Liver | 1987 |
Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Citrulline; Humans; Kinetics; Mitochondria, Liver; Ornithine | 1988 |
Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Brain; Child; Citrulline; Humans; Injections, Intraperitoneal; Male; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Serotonin | 1988 |
[A case of adult-type citrullinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Humans; Male | 1988 |
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Brain; Child; Citrulline; Endoplasmic Reticulum; Humans; Liver Glycogen; Male; Mitochondria, Liver; Ornithine; Tomography, X-Ray Computed | 1988 |
Increased urinary excretion of argininosuccinate in type II citrullinemia.
Topics: Administration, Oral; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Argininosuccinic Acid; Citrulline; Female; Humans; Infant; Infant, Newborn; Kidney; Male | 1987 |
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Citrulline; Cloning, Molecular; DNA; Enzyme-Linked Immunosorbent Assay; RNA, Messenger; Urea | 1987 |
[Treatment of citrullinemia. Apropos of a case followed from birth. Importance of alpha-ketonic acids].
Topics: Amino Acid Metabolism, Inborn Errors; Benzoates; Citrulline; Follow-Up Studies; Humans; Infant, Newborn; Keto Acids; Male; Prognosis; Psychomotor Disorders | 1987 |
Messenger RNA coding for argininosuccinate synthetase in citrullinemia.
Topics: Adult; Aged; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Cell-Free System; Child; Child, Preschool; Citrulline; DNA; Electrophoresis, Agar Gel; Fructose-Bisphosphate Aldolase; Genes; Genetic Markers; Humans; Infant; Infant, Newborn; Kinetics; Ligases; Liver; Middle Aged; Nucleic Acid Hybridization; RNA, Messenger | 1986 |
Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Cells, Cultured; Citrulline; Fibroblasts; Genes; Genetic Engineering; Genetic Vectors; Humans; Ligases; Retroviridae | 1986 |
Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; DNA; Enzyme-Linked Immunosorbent Assay; Humans; Ligases; Liver; Nucleic Acid Hybridization; RNA, Messenger | 1987 |
[Hyperornithinemia, hyperammonemia and homocitrullinuria syndrome in a family].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electroencephalography; Humans; Male; Mitochondria; Ornithine; Syndrome | 1987 |
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrulline; Dietary Proteins; Fibroblasts; Humans; In Vitro Techniques; Male; Mitochondria; Ornithine; Oxidation-Reduction; Syndrome | 1987 |
[A case of citrullinemia with cluster type distribution of argininosuccinate synthetase in the liver].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Citrulline; Humans; Ligases; Liver; Male | 1987 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Fibroblasts; Humans; Liver; Male; Ornithine; Reference Values; Skin | 1987 |
Citrullinemia: quantitative deficiency of argininosuccinate synthetase in the liver.
Topics: Adenosine Triphosphate; Adult; Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Aspartic Acid; Brain; Citrulline; Female; Humans; Infant, Newborn; Kidney; Ligases; Liver; Male | 1986 |
Citrullinaemia as a cause of neurological disease in neonatal Friesian calves.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Argininosuccinate Synthase; Cattle; Cattle Diseases; Citrulline; Female; Ligases; Male; Nervous System Diseases | 1986 |
Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Bone Development; Child, Preschool; Citrulline; Female; Humans; Lysine; Osteogenesis; Osteoporosis | 1985 |
Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinate Synthase; Cell-Free System; Citrulline; Fibroblasts; Humans; Infant; Infant, Newborn; Japan; Kidney; Ligases; Liver; Protein Biosynthesis; Skin | 1985 |
Neonatal citrullinemia associated with cutaneous manifestations and arginine deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinate Synthase; Biopsy; Citric Acid Cycle; Citrulline; Epidermis; Erythema; Humans; Infant; Infant, Newborn; Ligases; Male; Neutrophils; Parakeratosis; Skin Diseases | 1986 |
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria).
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Biological Transport; Child, Preschool; Citrulline; Fibroblasts; Follow-Up Studies; Humans; Kinetics; Male; Ornithine; Psychomotor Disorders; Seizures; Syndrome | 1986 |
Pili torti in association with citrullinemia.
Topics: Alopecia; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrulline; Female; Hair; Humans | 1985 |
The EEGs of infants with citrullinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Electroencephalography; Female; Humans; Infant, Newborn | 1985 |
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Citrulline; Cytoplasm; Humans; Male; Ornithine; Orotic Acid; Syndrome | 1985 |
Excretion of -N-acetylcitrulline in citrullinaemia.
Topics: Acetates; Adult; Amino Acid Metabolism, Inborn Errors; Chemical Phenomena; Chemistry; Chromatography, Ion Exchange; Chromatography, Paper; Chromatography, Thin Layer; Citrulline; Diet; Dietary Proteins; Humans; Infant; Staining and Labeling | 1971 |
Human cell cultures. Their use in the investigation and diagnosis of disease.
Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carbohydrate Metabolism, Inborn Errors; Cell Line; Child; Child, Preschool; Chromosomes, Human, 21-22 and Y; Citrulline; Culture Techniques; Down Syndrome; Female; Fibroblasts; Genetic Diseases, Inborn; Glycogen Storage Disease; Glycosaminoglycans; Humans; Infant; Infant, Newborn; Lymphocytes; Malonates; Metabolism, Inborn Errors; Methane; Skin; Staining and Labeling; Trisomy | 1970 |
Growth of establishes lymphocytes in selective media: application to studies of inborn metabolic errors and somatic mutations.
Topics: Amino Acid Metabolism, Inborn Errors; Cell Line; Citrulline; Culture Media; DNA, Viral; Galactosemias; Herpesvirus 4, Human; Humans; Hybrid Cells; Lesch-Nyhan Syndrome; Lymphocytes; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mutation; Pentosyltransferases | 1973 |
Letter: On a late developing urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Ligases; Lysine; Ornithine Carbamoyltransferase; Succinates; Urea | 1974 |
Letter: The high levels of lysine, homocitrulline, and homoarginine found in argininosuccinate synthetase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Ligases; Lysine; Succinates | 1974 |
Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Diet; Humans; Ligases; Lysine; Ornithine Carbamoyltransferase; Succinates | 1974 |
Argininosuccinicaciduria: clinical, metabolic and dietary study.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Ataxia; Child; Citrulline; Dietary Proteins; Electroencephalography; Epilepsy; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Ornithine; Phenobarbital; Seizures; Succinates; Tremor | 1974 |
Citrullinemia in a newborn infant.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Citrulline; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male | 1972 |
Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Ataxia; Citrulline; Epilepsy; Female; Humans; Ornithine; Paralysis; Psychomotor Disorders | 1973 |
[Argininosuccinic aciduria with and without hyperammoniemia. Study of 2 cases].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Child; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Citrulline; Dietary Proteins; Electrocardiography; Electroencephalography; Hepatomegaly; Humans; Intellectual Disability; Male; Movement Disorders; Seizures; Speech Disorders | 1973 |
Citrullinemic lymphocytes in long term culture.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Autoradiography; Carbon Isotopes; Cell Line; Citrulline; Genetic Variation; Humans; In Vitro Techniques; Ligases; Lymphocytes; Male; Mitosis; Proteins; Time Factors | 1973 |
Citrullinemia and an alternative urea cycle.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Humans; Infant; Lysine; Urea | 1973 |
Citrullinemia, report of a case, with studies on antenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amniocentesis; Arginase; Autopsy; Brain; Carbamates; Carbon Radioisotopes; Cell Line; Citrulline; Electrophoresis; Female; Fetal Diseases; Humans; Infant, Newborn; Ligases; Liver; Male; Ornithine Carbamoyltransferase; Phosphotransferases; Pregnancy; Prenatal Diagnosis; Time Factors | 1973 |
Hyperlysinaemia. Harmless inborn error of metabolism?
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Body Height; Carbon Isotopes; Child; Citrulline; Cystine; Fibroblasts; Humans; Ketone Oxidoreductases; Lysine; Male; Ornithine | 1973 |
Variants of citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Brain; Chromatography; Citrulline; Dyspnea; Edema; Electrophoresis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Lung; Male; Microscopy, Electron; Spasm; Urea | 1973 |
Enzyme studies in a patient with saccharopinuria: a defect of lysine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Cells, Cultured; Chromatography, Paper; Citrulline; Electrophoresis; Enzyme Induction; Fibroblasts; Glutarates; Humans; In Vitro Techniques; Ketoglutaric Acids; Lysine; Mitochondria; Oxidoreductases; Skin | 1974 |
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Dietary Proteins; Female; Humans; Intellectual Disability; Lysine; Mitochondria; Ornithine; Ornithine Carbamoyltransferase; Proline; Transaminases | 1974 |
Citrullinemia: investigation and treatment over a four-year period.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrulline; Dietary Proteins; Dipeptides; Female; Fibroblasts; Follow-Up Studies; Guanidines; Humans; Infant; Infant, Newborn; Orotic Acid; Peptide Synthases; Urea; Uric Acid | 1974 |
Management of newborn babies in whom serious metabolic illness is anticipated.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Blood Protein Electrophoresis; Citrulline; Dietary Carbohydrates; Electrophoresis; Exchange Transfusion, Whole Blood; Female; Glucose; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Infusions, Parenteral; Labor, Induced; Metabolism, Inborn Errors; Patient Care Planning; Pregnancy; Umbilical Cord | 1974 |
Severe neonatal citrullinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Citrulline; Dietary Carbohydrates; Dietary Proteins; Glucose; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Male; Seizures; Urea | 1974 |
The relationship between the formation of urea and argininosuccinate in a patient with argininosuccinic aciduria studied with labelled precursors.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Carbamates; Carbon Radioisotopes; Citrulline; Cystinuria; Guanidines; Humans; Lyases; Male; Middle Aged; Nitrogen Isotopes; Quaternary Ammonium Compounds; Serum Globulins; Succinates; Urea | 1974 |
Saccharopinuria.
Topics: Adipates; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Chromatography, Paper; Citrulline; Dipeptides; Female; Humans; Lysine; Muscle Spasticity | 1972 |
A microassay for argininosuccinase in cultured cells.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Amniotic Fluid; Arginine; Carbon Isotopes; Cell Line; Cells, Cultured; Citrulline; Female; Fetal Diseases; Fibroblasts; Humans; Lyases; Male; Pregnancy; Skin; Succinates | 1972 |
Rapid column-chromatographic measurement of orotic acid.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Citrulline; Humans; Methods; Orotic Acid; Spectrum Analysis; Ultraviolet Rays | 1971 |
Citrullinaemia with rapidly fatal neonatal course.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Citrulline; Electrophoresis; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Ligases; Liver; Respiratory Insufficiency; Seizures | 1971 |
Hereditary disorders of amino acid metabolism associated with mental deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Citrulline; Deficiency Diseases; Hartnup Disease; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylketonurias; Succinates | 1969 |
Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Amniotic Fluid; Biopsy; Cell Line; Citrulline; Culture Techniques; Humans; Keto Acids; Ornithine; Skin; Transaminases | 1970 |
Citrullinemia: elevated serum citrulline levels in healthy siblings.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Azo Compounds; Child, Preschool; Chromatography; Citrulline; Electrophoresis; Heterozygote; Humans; Infant, Newborn; Middle Aged; Pedigree; Sulfonic Acids | 1970 |
[Citrullinemia].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Ammonia; Autopsy; Chromatography; Citrulline; Humans; Infant; Lysine; Male; Urea | 1971 |
Saccharopinuria: a new inborn error of lysine metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Ion Exchange; Chromatography, Paper; Citrulline; Female; Histidine; Humans; Lysine | 1968 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ataxia; Child, Preschool; Citrulline; Diet Therapy; Humans; Intellectual Disability; Lysine; Male; Myoclonus; Ornithine; Ornithine Carbamoyltransferase; Seizures | 1969 |
[Congenital metabolic disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Succinates; Urea | 1969 |
Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Aspartic Acid; Brain; Cerebellum; Citrulline; Female; Humans; Infant; Intellectual Disability; Liver; Lyases; Myelin Sheath; Neuroglia; Succinates | 1969 |
A familial study of a human enzyme defect, argininosuccinic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Citrulline; Humans; Molecular Biology; Succinates; Urine | 1964 |