histidine has been researched along with Amino Acid Metabolism Disorders, Inborn in 242 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 211 (87.19) | 18.7374 |
| 1990's | 19 (7.85) | 18.2507 |
| 2000's | 8 (3.31) | 29.6817 |
| 2010's | 3 (1.24) | 24.3611 |
| 2020's | 1 (0.41) | 2.80 |
| Authors | Studies |
|---|---|
| Ajikumar, A; Narayanan, SP; Premkumar, AKN | 1 |
| Breadmore, MC; Gooley, AA; Guijt, RM; Mikhail, IE; Tehranirokh, M | 1 |
| Attia, MS | 1 |
| Artuch, R; Espinós, C; Lupo, V; Martínez-Rubio, D; Ormazabal, A; Palau, F; Pineda, M; Spaapen, LJ; Vilaseca, MA | 1 |
| Brosco, JP; Dharia, R; Feudtner, C; Guez, G; Sanders, LM | 1 |
| SCOTT, EB | 1 |
| FARBER, E; SIDRANSKY, H | 1 |
| AUERBACH, VH; BALDRIDGE, RC; BRIGHAM, MP; DIGEORGE, AM; TOURTELLOTTE, CD | 1 |
| FREYCON, MT | 1 |
| BERLOW, S; KIES, MW; MYRON, P; SNYDER, SH | 1 |
| LA DU, BN; ZANNONI, VG | 1 |
| DAVIES, HE; ROBINSON, MJ | 1 |
| CANBY, JP; HOWELL, RR; JACOBY, GA; LADU, BN; SEEGMILLER, JE; SOBER, EK; ZANNONI, VG; ZIEGLER, LK | 1 |
| SAMUELS, S | 1 |
| COFFEY, VP | 1 |
| EFRON, ML; MACCREADY, RA; MOSER, HW; YOUNG, D | 1 |
| KIIL, R; ROKKONES, T | 1 |
| AUERBACH, VH; BALDRIDGE, RC | 1 |
| GIOVANNINI, M; TERZOLI, S | 1 |
| HOLTON, JB; LEWIS, FJ; MOORE, GR | 1 |
| SNYDERMAN, SE | 1 |
| EFRON, ML | 1 |
| HOLTON, JB | 2 |
| ARENDS, R; BERLOW, S; HARRIES, C | 1 |
| AUERBACH, VH; DIGEORGE, AM | 1 |
| BESSMAN, SP | 1 |
| HOWELL, RR; JACOBY, GA; LA DU, BN; SEEGMILLER, JE; ZANNONI, VG | 1 |
| Belló-Klein, A; Durigon, K; Dutra-Filho, CS; Tansini, CM; Testa, CG; Wajner, M; Wannmacher, CM; Wyse, AT | 1 |
| Levy, HL; Waisbren, SE; Yu, JJ | 1 |
| Hodgson, HJ; Jones, M; Mellor, N; Selden, C; Themis, M | 1 |
| Asai, K; Coleman-Campbell, CM; Kawai, Y; Morishita, H; Moriyama, A; Suchi, M; Sumi, S | 1 |
| Izquierdo, NJ; Lladó, JR; Maumenee, IH; Santacana-Laffitte, G | 1 |
| Waisman, HA | 2 |
| Ghadimi, H; Partington, MW | 1 |
| van Sprang, FJ; Wadman, SK | 1 |
| Dumic, M; Jezerinac, Z; Juretic, D; Kalafatic, Z; Lipovac, K; Res, L; Zurga, B | 1 |
| Endo, F; Matsuda, I; Nagata, N | 1 |
| Levy, HL; Scriver, CR | 1 |
| Coulombe, JT; Hirsch, BZ; Kammerer, BL; Levy, HL; Scriver, CR | 1 |
| Benevenga, NJ; Steele, RD | 1 |
| Visek, WJ | 1 |
| Clow, CL; Levy, HL; Rosenmann, A; Scriver, CR | 1 |
| Fukuda, Y; Hase, Y; Imamura, I; Sakamoto, Y; Tsuruhara, T; Wada, H; Watanabe, T; Yamamoto, H | 1 |
| Hishinuma, H; Okajima, S | 2 |
| Maesaka, H; Suwa, S; Tokuhiro, E; Yokoya, S | 1 |
| Yasuda, N | 1 |
| Seleznev, IuV | 1 |
| Anakura, M | 1 |
| Aoki, K; Eto, Y; Ito, F; Ota, H | 1 |
| Cathelineau, L; Kamoun, PP; Meyer, B; Parvy, P | 1 |
| Ito, M; Kuroda, Y; Miyao, M; Toshima, K; Watanabe, T | 1 |
| Alm, J; Larsson, A; Rosenqvist, U | 1 |
| Bacchus, B; Dyme, IZ; Horwitz, SJ; Kerr, DS | 1 |
| Jäckel, R; Mönch, E; Weissenbach-Wollweber, M | 1 |
| Nikolaeva, EA | 1 |
| Prusiner, SB | 1 |
| Scriver, CR | 1 |
| Kovach, PM; Meyerhoff, ME | 1 |
| Chikazawa, S; Endo, F; Jinno, Y; Matsuda, I; Matsuo, K; Miura, H; Miyakita, T; Nagata, N; Uehara, I | 1 |
| Aoki, K; Arashima, S; Kawamura, M; Kitagawa, T; Kuroda, Y; Matsuda, I; Naruse, H; Oura, T; Sakai, K; Suwa, S; Tada, K; Takesada, M; Tateda, H; Yamashita, F | 1 |
| de Bree, PK; Duran, M; Ketting, D; Penders, TJ; van Sprang, FJ; Wadman, SK; Wilms, RH | 1 |
| Alm, J; Holmgren, G; Larsson, A; Schimpfessel, L | 1 |
| Barasnĕv, J | 1 |
| Ito, M; Kuroda, Y; Miyao, M; Ogawa, T; Takeda, E; Toshima, K; Watanabe, T | 1 |
| Brown, DA; Smith, A; Wilcken, B | 1 |
| Douay, O; Kamoun, PP | 1 |
| Harada, N; Suchi, M; Takagi, Y; Wada, Y | 1 |
| Virmani, K; Widhalm, K | 2 |
| Endo, F; Hoshide, R; Ishikawa, K; Kato, I; Kiwaki, K; Koike, E; Komaki, S; Matsuura, T; Oyanagi, K; Suzuki, Y | 1 |
| Eguchi, T; Fujitaka, M; Sakura, N; Ueda, K | 1 |
| Aoki, K | 1 |
| Clarke, GA; Grieco, D; McInnes, RR; Taylor, BA; Taylor, RG | 1 |
| Mizuno, H; Sano, H; Suchi, M; Wada, Y | 1 |
| Cleary, MA; Lam, WK; Walter, JH; Wraith, JE | 1 |
| Wada, Y | 1 |
| Imaeda, M; Wada, Y | 1 |
| Boneh, A; Drugan, A; Kure, S; Mandel, H; Matsubara, Y; Narisawa, K; Rolland, MO; Sakata, Y; Shinka, T; Tada, K | 1 |
| Kobayashi, M | 1 |
| Endo, F | 1 |
| Geraghty, MT; Hoover-Fong, JE; Raymond, GV; Thomas, GH | 1 |
| Bremer, HJ; Przyrembel, H | 2 |
| Applegarth, DA; Evans, ME; Hansen, S; Jellum, E; Perry, TL | 1 |
| Krüger, M; Menne, F; Otte, HJ; Winterhoff, D | 1 |
| Hill, GN; Pollard, AC; Robertson, EF | 1 |
| Bulfield, G | 1 |
| Kotsopoulos, S; Kutty, KM | 1 |
| Ito, M; Kuroda, Y; Miyao, M; Ogawa, T; Takeda, E; Toshima, K | 1 |
| Manka, M; Norton, PM; Sansaricq, C; Snyderman, SE | 1 |
| Bickel, H | 2 |
| Brown, ES; Geison, RL; Gerritsen, T; Waisman, HA | 1 |
| Jarosch, E; Plöchl, E; Tasser, C | 1 |
| Hayashida, T; Matsuda, I; Shinozuka, S | 1 |
| Blom, W; Fernandes, J | 1 |
| Batshaw, M; Brusilow, S; Kulovich, S; Nyhan, W; Spector, E; Thoene, J; Walser, M | 1 |
| Schön, R | 3 |
| Barashneva, SM; Rybakova, EP | 1 |
| Havelec, L; Knoll, E; Thalhammer, O; Wehle, E | 1 |
| Frimpter, GW | 2 |
| Brandt, NJ | 1 |
| Ergebnisse, E | 1 |
| Chucherin, LP; Sviatkina, OB | 1 |
| Bulfield, G; Kacser, H | 2 |
| berger, H; jarosch, E; Ludescher, E | 1 |
| Anakura, M; Arashima, S; Fukushima, N; Matsuda, I; Oka, Y | 1 |
| Cohen, ME; Duffner, PK | 1 |
| Armstrong, MD | 1 |
| Marliss, EB; McCulloch, C | 1 |
| Ferré, C; Maya, A; Puliol, M; Sabater, J | 1 |
| Havass, Z; László, A; Nagy, I; Svékus, A; Sztriha, L; Szücs, L; Veres, E | 1 |
| Levy, HL; McInnes, RR; Taylor, RG | 1 |
| Brown, P; Duncan, JS; Marsden, CD | 1 |
| Abe, N; Arita, K; Kamada, K; Kikuchi, K; Kinouchi, A; Miki, M; Nishino, M; Takarada, T | 1 |
| Catalano, M; Fara, C; Lucca, A; Smeraldi, E; Valsasina, R | 1 |
| Bardet, J; de Blois, MC; Kamoun, P; Lejeune, J; Parvy, P; Peeters, M; Rabier, D; Rethoré, MO | 1 |
| Sakura, N; Tanabe, M | 1 |
| Aoki, K; Wada, Y | 1 |
| Belitskaia, TT; Nikolaeva, EA | 1 |
| Furuta, T; Kasuya, Y | 1 |
| Dhir, SP; Krewi, A; Shisku, MW | 1 |
| Burns, JE; Kacser, H | 1 |
| Hyánek, J; Raisová, V | 2 |
| Ito, M; Kuroda, Y; Miyao, M; Tareda, E; Toshima, K; Watanabe, T | 1 |
| Cady, EB; Gadian, DG; Gardiner, RM; Proctor, E; Williams, SR | 1 |
| Hase, Y; Imamura, I; Sakamoto, Y; Shiba, T; Tsuruhara, T; Wada, H; Wakamiya, T; Watanabe, T | 1 |
| Clow, CL; Grove, J; Popkin, JS; Scriver, CR | 1 |
| Arakawa, T | 1 |
| Bundgaard, L; Winther, A | 1 |
| Lutz, P | 1 |
| Komrower, GM | 1 |
| Cain, AR; Holton, JB | 1 |
| Brissaud, HE | 1 |
| Levy, HL; Madigan, PM; Shih, VE | 1 |
| Alejandre, I; Armendares, S; Benïtez, S; Guïzar, J; Rostenberg, I | 1 |
| Narayanan, HS; Rao, SR; Subhash, MN | 1 |
| Banerjee, AP; Desai, AD; Karandikar, PV; Kothari, PD | 1 |
| Hammuri, M; Scheibenreiter, S | 1 |
| Perrone, L | 1 |
| Bickel, H; Schmidt, H; Schürrle, L | 1 |
| Ampola, MG | 1 |
| Bulfield, G; Kacser, H; Wallace, ME | 1 |
| Levy, HL | 3 |
| Cathelineau, L; Polonovski, C; Saudubray, JM | 1 |
| Bergner, H; Münchmeyer, R; Simon, O | 1 |
| Kroll, S; Toussaint, W; Zebisch, P | 2 |
| Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M | 1 |
| Tomaszewski, L | 1 |
| Lilly, PM; Neville, GR | 1 |
| Böhme, G; Theile, H | 1 |
| Thalhammer, O | 2 |
| de Bree, PK; van Biervliet, JP; van Sprang, FJ; Wadman, SK | 1 |
| Kovács, J | 1 |
| Magnussen, K | 1 |
| de Chateau, P; Hambraeus, L; Holmgren, G | 1 |
| Gardner, RJ; Lyon, IC; Veale, AM | 1 |
| Ampola, MG; Efron, ML | 1 |
| Menne, F | 1 |
| Mohyuddin, F; Rosenblatt, D; Scriver, CR | 1 |
| Buravina, TA; Iur'eva, EA; Koroleva, IA; Lebedev, VP; Mukhina, IuG | 1 |
| Galamon, T; Szulc-Kuberska, J; Tronczyńska, J | 3 |
| Seegmiller, JE | 1 |
| Pantlitschko, M; Scheibenreiter, S; Thalhammer, O | 2 |
| Hill, HD; Newton, DA; Summer, GK | 1 |
| Lee, DJ | 1 |
| Bentovim, A; Clayton, BE; Neville, BG; Shepherd, J | 1 |
| Barashnev, IuI; Kozlova, SI; Sviatkina, OB | 1 |
| Brown, DA; Turner, B | 1 |
| Andrews, WA; Cooke, JR; Mahon, DF; Raine, DN | 1 |
| Knoll, E; Scheibenreiter, S; Schmierer, G; Schön, R; Thalhammer, O | 1 |
| Cheng, B; Lloyd, JK; Matthews, DM; Seakins, JW; Tarlow, MJ; Thomas, AJ | 1 |
| Bischoff, S; Lampart, C; Pollard, H; Rehault, MC; Rose, C; Schwartz, JC | 1 |
| Menkes, JH | 1 |
| Barkin, E; Levy, HL | 1 |
| Hague, RV; Holton, JB | 1 |
| Arakawa, T; Honda, Y; Tada, K; Yoshida, T | 1 |
| Griffiths, MI | 1 |
| Raine, DN | 1 |
| Sietti, C | 1 |
| Schön, R; Thalhammer, O | 1 |
| Carson, NA; Martin, VA | 1 |
| La Du, BN | 1 |
| Barois, A; Caldera, R; Escourolle, R; Goulon, M; Grosbuis, S; Nouailhat, F | 1 |
| Devereux, M; Gatfield, PD; Knights, RM; Pozsonyi, JP | 1 |
| Baden, HP; Hori, Y; Levy, HL; Pathak, MA | 1 |
| Baden, HP; Levy, HL; Shih, VE | 1 |
| Allen, IV; Carson, NA; Chopra, JS; Hurwitz, LJ | 1 |
| Garvey, AM; Gordon, N | 1 |
| Gilman, PA; Howell, RR | 1 |
| Holton, JB; Small, NA | 1 |
| Humbel, R | 1 |
| Hurwitz, LJ; McCormick, D | 1 |
| Abeles, RH; Givot, IL | 1 |
| Kibel, MA; Levy, HL | 1 |
| Helger, R; Kraffczyk, F; Lang, H | 1 |
| Levy, HL; Lott, IT; Wheelden, JA | 1 |
| Holmgren, G; Jeppson, JO; Samuelson, G | 1 |
| Tada, K; Takada, G | 1 |
| Antener, I | 1 |
| Levy, HL; Madigan, PM; Peneva, P | 1 |
| Harris, RF; Neville, BG; Stern, DJ; Stern, J | 1 |
| Howell, RR; Kappelman, M; Thomas, GH | 1 |
| Newton, DA; Summer, GK | 1 |
| Beauvais, P; Dreyfus, J; Humbel, R; Klein, F | 1 |
| Gusev, EI | 1 |
| Orsini, A; Perrimond, H; Pierron, H; Vovan, L | 1 |
| Corner, BD; Holton, JB; Norman, RM; Williams, PM | 1 |
| Fowler, B; Griffiths, MJ; Komrower, GM; Lambert, AM | 1 |
| Carré, LJ; Carson, NA; Neill, DW; Scally, BG | 1 |
| Holton, JB; Jones, S; Small, NA | 1 |
| Rogers, S | 1 |
| Gerber, DA; Gerber, MG | 1 |
| Holton, JB; Seakins, JW | 1 |
| Gross, S; Maskaleris, ML; Milhorat, AT | 1 |
| Ashurst, PJ | 1 |
| Coward, RF; Seakins, JW; Smith, P | 1 |
| Barnes, MJ; Constable, BJ; Kodicek, E | 1 |
| Harris, JA; Snyder, CH; Woody, NC | 1 |
| Bowman, JK; Clarance, GA | 1 |
| de Bree, PK; van Sprang, FJ; van Stekelenburg, GJ; Wadman, SK | 1 |
27 review(s) available for histidine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
AMINOACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Transport; Cystinuria; Histidine; Homocysteine; Humans; Hydroxyproline; Kidney; Methionine; Proline; Renal Aminoacidurias | 1965 |
Adverse effects of excessive consumption of amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Cattle; Diet; Disease Models, Animal; Ethionine; Fenclonine; Glycine; Growth Disorders; Histidine; Humans; Methionine; Nerve Tissue Proteins; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pneumonia, Atypical Interstitial, of Cattle; Serine; Stereoisomerism; Sulfhydryl Compounds; Tissue Distribution; Tryptophan; Tyrosine; Vitamin A | 1984 |
An update of concepts of essential amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Animals; Arginine; Atrophy; Child; Choroid; Dietary Proteins; Female; Glucose Tolerance Test; Growth; Histidine; Humans; Insulin; Kidney Failure, Chronic; Male; Middle Aged; Nitrogen; Nutritional Requirements; Orotic Acid; Pregnancy; Retinal Diseases; Reye Syndrome; Urea; Uveal Diseases; Wounds and Injuries | 1984 |
[Histidenemia (a review of the literature)].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Animals; Child; Child, Preschool; Female; Formiminoglutamic Acid; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Polymorphism, Genetic; Pregnancy; Speech Disorders; Urocanic Acid | 1980 |
Disorders of glutamate metabolism and neurological dysfunction.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; gamma-Aminobutyric Acid; Glutamates; Glutamine; Glutathione; Histidine; Humans; Ketoglutaric Acids; Nervous System Diseases; Proline; Pyrrolidonecarboxylic Acid | 1981 |
Garrod's legacy to the nations of mice and men.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport; Cell Membrane; Disease Models, Animal; Histidine; Humans; Hypophosphatemia, Familial; Metabolism, Inborn Errors; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase Deficiency Disease; Phosphates; Proline Oxidase | 1981 |
[Disorders of amino acids].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Homocystine; Humans; Infant; Japan; Male; Maple Syrup Urine Disease; Phenylalanine; Reference Standards | 1993 |
Histidinemia: a biochemical variant or a disease?
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Histidine; Histidine Ammonia-Lyase; Humans | 1993 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Histidine; Humans; Prognosis | 1998 |
[Urocanic aciduria (urocanase deficiency)].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Histidine; Humans; Prognosis; Urocanate Hydratase; Urocanic Acid | 1998 |
[Histidinuria due to a renal tubular defect].
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Diagnosis, Differential; Genes, Recessive; Histidine; Humans | 1998 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans | 2001 |
Nutrition and animal models of inherited metabolic disease.
Topics: Acatalasia; Amino Acid Metabolism, Inborn Errors; Anemia; Animals; Diabetes Mellitus; Disease Models, Animal; Enzymes; Female; Glycogen Storage Disease Type VIII; Histidine; Humans; Hyperlipidemias; Metabolism, Inborn Errors; Mice; Mutation; Nervous System Diseases; Nutritional Physiological Phenomena; Obesity; Parabiosis; Pregnancy; Syndrome | 1977 |
[Histidinemia].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Cognition Disorders; Growth Disorders; Histidine; Humans; Intelligence; Intelligence Tests; Middle Aged; Speech Disorders | 1975 |
Histidase and histidinemia. Clinical and molecular considerations.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Molecular Sequence Data; Neonatal Screening; Phenylalanine Ammonia-Lyase; Skin; Urocanic Acid | 1991 |
Congenital and acquired disturbances of histidine metabolism.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Biopsy; Carbon Radioisotopes; Child; Child, Preschool; Diet Therapy; Female; FIGLU Test; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Intellectual Disability; Liver; Male; Phenytoin; Rats; Seizures; Skin; Speech Disorders; Transferases; Urocanate Hydratase; Vitamin B 12 | 1974 |
Dietary treatment of inborn errors of amino acid and carbohydrate metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child Development; Child Nutritional Physiological Phenomena; Child, Preschool; Cystinosis; Diet Therapy; Galactose; Glucose; Histidine; Homocystinuria; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Lactose Intolerance; Malabsorption Syndromes; Maple Syrup Urine Disease; Phenylketonurias; Sucrose; Tyrosine | 1973 |
Phenylketonuria and other disorders of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1973 |
[Transitory disorders of amino acid metabolism. Practical viewpoints].
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Cystathionine; Diagnosis, Differential; Histidine; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Infant, Premature, Diseases; Male; Metabolic Diseases; Methionine; Milk Proteins; Phenylalanine; Rats; Testicular Diseases; Time Factors; Tyrosine | 1973 |
Genetic screening.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine | 1973 |
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 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 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 |
[Primary and secondary hyperaminoaciduria in children (review of the literature)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport, Active; Cystinuria; Fanconi Syndrome; Glycine; Glycosuria, Renal; Hartnup Disease; Histidine; Humans; Infant, Newborn; Kidney Diseases; Kidney Tubules; Maple Syrup Urine Disease; Phenylketonurias; Proline; Renal Aminoacidurias; Renal Tubular Transport, Inborn Errors; Sodium | 1970 |
Genetic and molecular basis of human hereditary diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Arthritis; Brain Diseases; Genetic Diseases, Inborn; Glycogen Storage Disease; Gout; Histidine; Humans; Metabolism, Inborn Errors; Mutation; Nutrition Disorders; Phenylketonurias; Tyrosine | 1967 |
Histidinemia. Current status.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Humans; Infant; Male | 1967 |
215 other study(ies) available for histidine and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
The self-assembly of L-histidine might be the cause of histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Proteins | 2023 |
In-Syringe Electrokinetic Ampholytes Focusing Coupled with Electrospray Ionization Mass Spectrometry.
Topics: Amino Acid Metabolism, Inborn Errors; Buffers; Histidine; Histidine Ammonia-Lyase; Humans; Isoelectric Focusing; Reproducibility of Results; Spectrometry, Mass, Electrospray Ionization; Syringes | 2019 |
Nano optical probe samarium tetracycline complex for early diagnosis of histidinemia in new born children.
Topics: Amino Acid Metabolism, Inborn Errors; Biosensing Techniques; Early Diagnosis; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Limit of Detection; Luminescence; Samarium; Spectrometry, Fluorescence; Tetracycline | 2017 |
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ataxia; Biomarkers; Child; Computer Simulation; Female; Folic Acid; Histidine; Humans; Intellectual Disability; Models, Molecular; Molecular Sequence Data; Mutation; Sequence Alignment; Urocanate Hydratase; Urocanic Acid | 2009 |
The lure of treatment: expanded newborn screening and the curious case of histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Humans; Infant, Newborn; Neonatal Screening | 2010 |
Histopathology of amino acid deficiencies. III. Histidine.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Humans | 1954 |
Chemical pathology of acute amino acid deficiencies. I. Morphologic changes in immature rats fed threonine-, methionine-, or histidine-devoid diets.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Diet; Histidine; Methionine; Rats; Threonine | 1958 |
Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Intellectual Disability; Pyruvates | 1962 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Metabolic Diseases | 1962 |
Metabolism of 2-C14 labeled L-histidine in histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Puberty; Puberty, Precocious; Sexual Maturation | 1963 |
Determination of histidine alpha-deaminase in human stratum corneum and its absence in histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Epidermis; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Lyases; Metabolic Diseases; Skin | 1963 |
A case of histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Dwarfism; Histidine; Histidine Ammonia-Lyase; Humans; Infections; Intellectual Disability | 1963 |
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Deficiency Diseases; Diagnosis, Differential; Genetics; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Liver; Metabolic Diseases; Phenylketonurias; Spectrophotometry; Speech Disorders; Urine | 1963 |
HIGH-RESOLUTION SCREENING OF AMINO-ACIDURIAS.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Electrophoresis; Histidine; Humans; Indicators and Reagents; Lead Poisoning; Maple Syrup Urine Disease; Mass Screening; Metabolic Diseases; Phenylketonurias; Renal Aminoacidurias; Urine | 1964 |
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 |
LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).
Topics: Amino Acid Metabolism, Inborn Errors; Blood Proteins; Child; Chromatography; Cystine; Histidine; Humans; Infant; Isoleucine; Kidney; Leucine; Maple Syrup Urine Disease; Pathology; Renal Aminoacidurias; Valine | 1964 |
THE METABOLISM OF HISTIDINE. VI. HISTIDINEMIA AND IMIDAZOLEPYRUVIC ACIDURIA.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Child; Chromatography; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Intellectual Disability; Lyases; Phenylhydrazines; Pyruvates; Ultraviolet Rays; Urine | 1964 |
[CONSIDERATIONS ON A CASE OF MENTAL DEBILITY WITH ALTERATIONS OF HISTIDINE METABOLISM].
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Body Fluids; Child; Chromatography; Histidine; Humans; Intellectual Disability; Speech Disorders; Urine | 1964 |
BIOCHEMICAL INVESTIGATION OF HISTIDINAEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Child; Chromatography; Clinical Laboratory Techniques; Electrophoresis; FIGLU Test; Genetics, Medical; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infections; Intellectual Disability; Seizures; Skin; Urine | 1964 |
AN ECZEMATOID DERMATITIS IN HISTIDINE DEFICIENCY.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Dermatitis; Diet; Diet Therapy; Dietary Proteins; Eczema; Histidine; Histocytochemistry; Humans; Infant; Skin | 1965 |
SKIN L-HISTIDINE AMMONIA-LYASE ACTIVITY IN THE FAMILY OF A CHILD WITH HISTIDINAEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Chemistry Techniques, Analytical; Child; Clinical Enzyme Tests; Genetics, Medical; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Lyases; Metabolic Diseases; Skin | 1965 |
STUDIES IN HISTIDINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability; Molecular Biology | 1965 |
HISTIDINEMIA.
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability | 1964 |
IMIDAZOLE AMINO ACIDURIA. A BIOCHEMICAL DEFECT IN JUVENILE TAY-SACHS DISEASE.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Gangliosidoses, GM2; Genetics, Medical; Histidine; Humans; Imidazoles; Lipidoses; Tay-Sachs Disease; Urine | 1964 |
The enzymatic defect in histidinemia.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability | 1962 |
Effects of histidine and imidazolelactic acid on various parameters of the oxidative stress in cerebral cortex of young rats.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Catalase; Cerebral Cortex; Disease Models, Animal; Dose-Response Relationship, Drug; Female; Free Radicals; Glutathione Peroxidase; Histidine; Imidazoles; Lactates; Luminescent Measurements; Oxidants; Oxidative Stress; Rats; Rats, Wistar; Superoxide Dismutase | 2004 |
Maternal histidinaemia: pregnancies and offspring outcomes.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Birth Weight; Child; Child Development; Cognition; Female; Histidine; Humans; Infant, Newborn; Male; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Prognosis; Prospective Studies; Retrospective Studies | 2004 |
Characteristics of murine histidinaemia and its potential for genetic manipulation.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; DNA, Complementary; Genetic Therapy; Histidine; Histidine Ammonia-Lyase; Liposomes; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Retroviridae; Transduction, Genetic | 2004 |
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Molecular Sequence Data; Mutation, Missense; Polymorphism, Genetic; Urocanic Acid | 2005 |
Juvenile cataracts in a patient with histidinuria: case report.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Cataract; Female; Histidine; Humans; Lens Implantation, Intraocular; Phacoemulsification | 2006 |
Some theoretical considerations in the treatment of homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Diet Therapy; Histidine; Homocystinuria; Humans; Hydro-Lyases; Intellectual Disability; L-Serine Dehydratase; Liver; Methionine; Rats | 1967 |
Variations in clinical and laboratory findings in histidinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Intellectual Disability; Male; Speech Disorders | 1967 |
Salient features of histidinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Female; Glutamates; Growth; Histidine; Humans; Infant; Intellectual Disability; Lyases; Male; Speech Disorders | 1967 |
Treatment of a patient with histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Histidine; Humans | 1967 |
A liver urocanase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Formiminoglutamic Acid; Histidine; Histidine Ammonia-Lyase; Humans; Hydro-Lyases; Imidazoles; Liver; Male; Skin; Urocanate Hydratase; Urocanic Acid | 1980 |
Blood histidine levels during course of histidinaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; Female; Histidine; Humans; Infant; Male | 1982 |
Histidinaemia. Part I: Reconciling retrospective and prospective findings.
Topics: Amino Acid Metabolism, Inborn Errors; Central Nervous System Diseases; Child; Developmental Disabilities; Histidine; Humans; Infant, Newborn; Mass Screening; Phenotype; Prospective Studies; Retrospective Studies | 1983 |
Histidinaemia. Part III: Impact; a prospective study.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Developmental Disabilities; Female; Histidine; Humans; Intelligence Tests; Male; Phenotype; Prospective Studies | 1983 |
Histidinaemia. Part II: Impact; a retrospective study.
Topics: Adolescent; Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System Diseases; Child; Child, Preschool; Female; Histidine; Humans; Infant; Infant, Newborn; Male; Phenotype; Pregnancy; Retrospective Studies | 1983 |
Histamine metabolism in patients with histidinemia: determination of urinary levels of histamine, N tau-methylhistamine, imidazole acetic acid, and its conjugate(s).
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Creatinine; Eczema; Histamine; Histidine; Humans; Imidazoles; Infant; Methylhistamines | 1984 |
[A mother's manuscript on her lost son who died of a histidine metabolism disorder. 2].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Histidine; Humans; Male; Mother-Child Relations | 1983 |
[A mother's manuscript over her lost son who died from histidine metabolism disorders (1)].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Death; Histidine; Humans; Male; Mothers | 1983 |
Measurement of the skin urocanic acid content in normal and histidinemic infants.
Topics: Adolescent; Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Male; Photometry; Reference Values; Skin; Urocanic Acid | 1983 |
Geographical variations in inborn errors of metabolism in Japan.
Topics: Amino Acid Metabolism, Inborn Errors; Galactosemias; Histidine; Humans; Japan; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias | 1984 |
[Thiophosphamide sensitivity of lymphocyte chromosomes of children with hereditary amino acid metabolic diseases].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromosomes, Human; Histidine; Humans; Lymphocytes; Phenylketonurias; Psychomotor Disorders; Thiotepa | 1981 |
[Clinical studies of histidinemia (author's transl)].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Bacillus subtilis; Biological Assay; Child, Preschool; Histidine; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors | 1981 |
Urocanic acid contents in histidinaemic infant and developing rat epidermis.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Epidermis; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Infant; Rats; Urocanic Acid | 1981 |
Renal Histidinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Histidine; Humans; Kidney; Kidney Tubules; Male | 1981 |
Altered kinetic properties of skin histidase in two patients with histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Child; Child, Preschool; Histidine; Histidine Ammonia-Lyase; Humans; Kinetics; Skin | 1982 |
Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines.
Topics: Amino Acid Metabolism, Inborn Errors; Cost-Benefit Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Sweden; Tyrosine | 1982 |
Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Humans; Infant; Intellectual Disability; Language Development Disorders; Male; Myoclonus | 1983 |
[Thin layer chromatographic test for the indirect and direct detection of the enzyme defect in histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Chromatography, Thin Layer; Histidine; Histidine Ammonia-Lyase; Humans; Skin; Urocanic Acid | 1983 |
Development and application of a histidine-selective biomembrane electrode.
Topics: Amino Acid Metabolism, Inborn Errors; Electrodes; Histidine; Histidine Decarboxylase; Humans; Membranes; Potentiometry | 1982 |
Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Female; Formiminoglutamic Acid; Glutarates; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Male; Skin | 1982 |
Intellectual development in patients with untreated histidinemia. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Japan; Male; Mass Screening; Risk | 1982 |
A case of formiminoglutamic aciduria. Clinical and biochemical studies.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Epilepsy; Folic Acid; Formiminoglutamic Acid; Glutarates; Histidine; Humans; Intellectual Disability; Male | 1981 |
Histidinaemia in Sweden. Report on a neonatal screening programme.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Histidine; Humans; Infant, Newborn; Mass Screening; Sweden; Urocanic Acid | 1981 |
[Enzyme activity and the character of metabolic changes in brain tissue in children with phenylketonuria and histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child; Child, Preschool; Histidine; Humans; Infant; Liver; Phenylketonurias | 1980 |
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Child, Preschool; Female; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Male; Skin | 1980 |
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies.
Topics: Amino Acid Metabolism, Inborn Errors; Australia; Cystinuria; Follow-Up Studies; Histidine; Humans; Infant; Mass Screening | 1980 |
Serotonin in experimental histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Body Weight; Brain; Disease Models, Animal; Histidine; Male; Methane; Nitroparaffins; Organ Specificity; Rats; Serotonin | 1980 |
Molecular cloning of a cDNA encoding human histidase.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Cloning, Molecular; Conserved Sequence; DNA, Complementary; Histidine; Histidine Ammonia-Lyase; Humans; Molecular Sequence Data | 1993 |
Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Austria; Child; Child, Preschool; Female; Follow-Up Studies; Histidine; Humans; Infant; Infant, Newborn; Male; Psychological Tests; Surveys and Questionnaires; Time Factors | 1994 |
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Base Sequence; DNA Mutational Analysis; DNA Primers; DNA, Single-Stranded; Glycine; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Male; Methionine; Molecular Epidemiology; Molecular Sequence Data; Nucleic Acid Conformation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tryptophan; X Chromosome | 1994 |
Measurement of histidase activity in human fingernail by reversed-phase HPLC.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Histidine; Histidine Ammonia-Lyase; Humans; Nails; Urocanic Acid | 1993 |
Identification of the mutation in murine histidinemia (his) and genetic mapping of the murine histidase locus (Hal) on chromosome 10.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Chromosome Mapping; Cloning, Molecular; DNA; DNA Mutational Analysis; Genetic Markers; Histidine; Histidine Ammonia-Lyase; Liver; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Mice, Mutant Strains; Molecular Sequence Data; RNA, Messenger | 1993 |
Molecular cloning and structural characterization of the human histidase gene (HAL).
Topics: Alternative Splicing; Amino Acid Metabolism, Inborn Errors; Animals; Base Sequence; Binding Sites; Cholesterol Side-Chain Cleavage Enzyme; Cloning, Molecular; DNA; DNA Primers; Exons; Genomic Library; Histidine; Histidine Ammonia-Lyase; Hominidae; Humans; Introns; Liver; Mice; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Genetic; Restriction Mapping; RNA, Messenger; Skin; TATA Box; Transcription Factors | 1995 |
Histidinaemia: a benign metabolic disorder.
Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Child Development; Female; Follow-Up Studies; Growth; Histidine; Humans; Infant, Newborn; Intelligence; Male; Prospective Studies; Weight Gain | 1996 |
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Aminomethyltransferase; Arabs; Arginine; DNA Mutational Analysis; Female; Glycine; Histidine; Humans; Hydroxymethyl and Formyl Transferases; Infant, Newborn; Israel; Liver; Male; Mutation; Pedigree; Prenatal Diagnosis | 1998 |
Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser.
Topics: Acetates; Adolescent; Adult; Amines; Amino Acid Metabolism, Inborn Errors; Anticonvulsants; Cyclohexanecarboxylic Acids; False Positive Reactions; Female; Gabapentin; gamma-Aminobutyric Acid; Histidine; Humans; Male | 2001 |
[Hereditary metabolic disorders with significance for adult age. Homocystinuria, histidinemia, cystinuria, vitamin-D-resistant rickets, alpha1-antitrypsin deficiency].
Topics: Adult; Age Factors; alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Child; Cystinuria; Diagnosis, Differential; Histidine; Homocystinuria; Humans; Hypophosphatemia, Familial; Liver Cirrhosis; Marfan Syndrome; Metabolism, Inborn Errors; Pulmonary Emphysema | 1976 |
Metabolic studies of a family with massive formiminoglutamic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Azo Compounds; Child; Child, Preschool; Chromatography, Gas; Chromatography, Paper; Female; FIGLU Test; Folic Acid; Folic Acid Deficiency; Glutamates; Glutarates; Histidine; Humans; Infant; Male; Renal Aminoacidurias; Spectrophotometry; Transferases | 1975 |
[Screening newborn infants for phenylketonuria, histadinemia, homocystinuria and maple syrup disease. Results from north rhein-westphalia (1974-1976) (author's transl].
Topics: Amino Acid Metabolism, Inborn Errors; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Retrospective Studies | 1978 |
Evaluation of a state-wide neonatal screening programme.
Topics: alpha 1-Antitrypsin Deficiency; Amino Acid Metabolism, Inborn Errors; Australia; Evaluation Studies as Topic; Follow-Up Studies; Galactosemias; Histidine; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine | 1979 |
Histidinemia and infantile autism.
Topics: Amino Acid Metabolism, Inborn Errors; Autistic Disorder; Child; Child Development; Family Characteristics; Histidine; Humans; Male; Parent-Child Relations; Speech Disorders | 1979 |
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Carbon Radioisotopes; Genetic Carrier Screening; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Kinetics; Microchemistry; Skin | 1979 |
The nutritional therapy of histidinemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child Development; Child, Preschool; Dietary Proteins; Follow-Up Studies; Growth; Histidine; Humans; Infant; Infant, Newborn; Male | 1979 |
Dietary restriction in inborn errors of amino acid metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Food, Formulated; Histidine; Homocystinuria; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Diseases; Child; Child, Preschool; Female; Heart Defects, Congenital; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Intellectual Disability; Male; Obesity | 1977 |
[Histidinemia in a normal intelligent boy with hearing defect (author's transl)].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Hearing Disorders; Histidine; Humans; Male; Speech Disorders | 1978 |
[Histidinemia--with special reference to screening and treatment].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Male | 1978 |
Folic acid dependent hypersarcosinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Folic Acid; Histidine; Humans; Oxidoreductases; Sarcosine; Vitamin B 12 | 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 |
[Newborn mass-screening programme for histidinaemia: increased efficiency through selective thin-layer chromatography (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Urocanic Acid | 1977 |
[Practical experience in organization and use of diet therapy for children with hereditary enzymopathies].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Histidine; Homocystinuria; Humans; Infant; Phenylketonurias | 1977 |
Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?
Topics: Amino Acid Metabolism, Inborn Errors; Female; Heterozygote; Histidine; Humans; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias | 1977 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; Disulfides; Glycine; Hartnup Disease; Histidine; Histidine Ammonia-Lyase; Homocystinuria; Humans; Methionine; Proline; Sulfites | 1976 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Diagnosis, Differential; Histidine; Histidine Ammonia-Lyase; Humans; Intellectual Disability | 1976 |
[Mass screening for histidinaemia:rationalization by selective thin layer chromatography. First results].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Chromatography, Thin Layer; Histidine; Humans; Imidazoles; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Urocanic Acid | 1976 |
[Methods and results of screening newborn infants for aminoacidopathies].
Topics: Amino Acid Metabolism, Inborn Errors; Europe; Galactosemias; Germany, West; Histidine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias | 1976 |
[A routine method for thin layer chromatographic determination of urocanic acid in blood samples impregnated on filter paper cards (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Thin Layer; Histidine; Humans; Imidazoles; Infant, Newborn; Mass Screening; Urocanic Acid | 1976 |
Histamine and histidine levels in the brain of the histidinaemic mutant mouse.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Female; Histamine; Histidine; Imidazoles; Mice; Mutation | 1975 |
[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Child; Cystinuria; Histidine; Humans; Intellectual Disability; Kidney Tubules; Levodopa; Lysine; Male; Parkinson Disease | 1975 |
Histidinemia. Classical and atypical form in siblings.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Diagnosis, Differential; Half-Life; Heterozygote; Histidine; Histidine Ammonia-Lyase; Humans; Male; Pedigree; Skin | 1975 |
Infantile spasms associated with histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Anticonvulsants; Electroencephalography; Histidine; Humans; Infant; Male; Prednisone; Spasms, Infantile | 1975 |
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.
Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Acid; Australia; Cystinuria; Ethnicity; Europe; Galactosemias; Genetics, Population; Hartnup Disease; Histidine; Homocystinuria; Humans; Inbreeding; Infant, Newborn; Israel; Japan; Maple Syrup Urine Disease; Mass Screening; New Zealand; North America; Phenylketonurias; Tyrosine | 1975 |
Maternal histidinaemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans | 1975 |
Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Atrophy; Cataract; Choroid; Histidine; Humans; Male; Muscles; Muscular Atrophy; Ornithine; Retinal Diseases; Retinal Vessels; Uveal Diseases; Visual Fields | 1975 |
Histidinuria: a renal and intestinal histidine transport deficiency found in two mentally retarded children.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Histidine; Humans; Intellectual Disability; Intestinal Absorption; Male; Renal Tubular Transport, Inborn Errors | 1976 |
[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)].
Topics: Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Hyperglycemia; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Tyrosine | 1992 |
Progressive myoclonus and histidinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cerebral Cortex; Evoked Potentials, Somatosensory; Female; Histidine; Humans; Myoclonus | 1991 |
[Hypoplasia of tooth in children with inborn errors of metabolism].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Dental Enamel Hypoplasia; Gangliosidosis, GM1; Histidine; Humans; Infant; Metabolism, Inborn Errors; Tooth Abnormalities; Tooth Diseases | 1990 |
Biochemical investigation of histidinemia in schizophrenic patients.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Genetic Carrier Screening; Histidine; Humans; Male; Risk Factors; Schizophrenia; Schizophrenic Psychology | 1990 |
[Cri-du-chat disease: plasma and urinary amino acids].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Asparagine; Aspartic Acid; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 5; Cri-du-Chat Syndrome; Female; Histidine; Humans; Intellectual Disability; Male; Models, Biological; Purine-Pyrimidine Metabolism, Inborn Errors | 1990 |
Hyperhistaminemia in patients with histidinemia due to increased decarboxylation of histidine.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Child, Preschool; Decarboxylation; Erythrocytes; Female; gamma-Globulins; Histamine; Histamine Release; Histidine; Humans; Immunoglobulin E; Indicators and Reagents; Infant; Infant, Newborn; Male; Sheep | 1989 |
Outcome of the patients detected by newborn screening in Japan.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Follow-Up Studies; Galactosemias; Histidine; Humans; Infant, Newborn; Japan; Male; Mass Screening; Phenylalanine | 1988 |
[Hereditary diseases related to disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Combined Modality Therapy; Histidine; Humans; Phenylketonurias | 1988 |
Stable isotope dilution mass spectrometry for the diagnostic study of histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Deuterium; Gas Chromatography-Mass Spectrometry; Histidine; Humans; Mass Spectrometry; Nitrogen Isotopes | 1988 |
Ocular involvement in histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans; Macula Lutea; Male; Nystagmus, Pathologic; Pigmentation Disorders; Retinal Diseases; Vision Disorders; Visual Acuity | 1987 |
Genetic effects on susceptibility to histidine induced teratogenesis in the mouse.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Crosses, Genetic; Disease Susceptibility; Female; Histidine; Male; Mice; Mice, Inbred C57BL; Mice, Inbred Strains; Muridae; Teratogens | 1987 |
Speech disorders associated with histidinemia and other hereditary disorders of amino acid metabolism.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Humans; Male; Middle Aged; Pedigree; Speech Disorders; Stuttering | 1986 |
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Female; Genes, Recessive; Genetic Carrier Screening; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Japan; Kinetics; Male; Mass Screening; Skin | 1985 |
Speech and language disorders in histidinaemia and other amino acid disturbances.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Histidine; Humans; Middle Aged; Speech Disorders | 1985 |
Neurometabolic effects of an inborn error of amino acid metabolism demonstrated in vivo by 1H NMR.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Chemistry; Female; Histidine; Humans; Magnetic Resonance Spectroscopy; Male; Mice; Mice, Mutant Strains; Phenylalanine; Phenylketonurias; Spectrum Analysis | 1986 |
N tau-Ribosylhistidine, a novel histidine derivative in urine of histidinemic patients. Isolation, structure, and tissue level.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Histidine; Humans; Magnetic Resonance Spectroscopy; Male; Rats; Rats, Inbred Strains; Tissue Distribution | 1985 |
Editorial: Histidinaemia: To treat or not to treat?
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Child, Preschool; Diet Therapy; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Intellectual Disability | 1974 |
Is hereditary histidinaemia harmful?
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Histidine; Homozygote; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Prospective Studies | 1974 |
Letter: Histidinaemia: to treat or not to treat?
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Histidine; Humans; Infant; Infant, Newborn | 1974 |
Argininosuccinic aciduria in hereditary hair diseases.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glutamates; Glutamine; Glycine; Hair; Histidine; Humans; Infant; Lysine; Male; Middle Aged; Serine; Skin Diseases; Threonine; Tyrosine; Valine | 1968 |
[Diagnostic methods for the detection of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Bacillus subtilis; Blood Protein Electrophoresis; Chemistry, Clinical; Chromatography; Clinical Enzyme Tests; Colorimetry; Fluorometry; Histidine; Humans; Leucine; Mass Screening; Metabolic Diseases; Methionine; Methods; Microbial Sensitivity Tests; Organization and Administration; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
The philosophy and practice of screening for inherited diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Amniocentesis; Child; Child, Preschool; Chromatography, Paper; Chromosome Aberrations; Clinical Enzyme Tests; Costs and Cost Analysis; Down Syndrome; Female; Genetic Counseling; Genetic Diseases, Inborn; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Karyotyping; Male; Mass Screening; Phenylketonurias; Philosophy, Medical; Pregnancy; Prenatal Diagnosis; Proline; Sex Determination Analysis | 1974 |
Histidinaemia: a child and his family.
Topics: Age Determination by Skeleton; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Diet Therapy; FIGLU Test; Histidine; Humans; Infant; Male; Pedigree; Seizures | 1968 |
Histidinemia and atopic dermatitis.
Topics: Adolescent; Age Determination by Skeleton; Amino Acid Metabolism, Inborn Errors; Child; Dermatitis, Atopic; Dyslexia; Genes, Recessive; Histidine; Humans; Intelligence Tests; Lyases; Male | 1968 |
[Dietetics of amino acid metabolism disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isoleucine; Leucine; Phenylketonurias; Tryptophan; Tyrosine; Valine | 1971 |
Routine newborn screening for histidinemia. Clinical and biochemical results.
Topics: Acrylates; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child Development; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Paper; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Language Development; Massachusetts; Prospective Studies; Skin; Speech Disorders | 1974 |
Histidinaemia in a consanguineous marriage.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Consanguinity; Female; Genes, Recessive; Heterozygote; Histidine; Humans; Infant; Male | 1974 |
Histidinemia. Report of a case.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Histidine; Humans; Male | 1974 |
Histidinemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Humans; Male; Pedigree | 1974 |
Loading tests in normal, heterozygos and homozygos individuals with histidine and methionine respectively. 107 tests (author's transl).
Topics: Adolescent; Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Heterozygote; Histidine; Homozygote; Humans; Hypoglycemia; Infant; Methionine; Methods; Time Factors | 1974 |
[Diet therapy of some inborn errors of metabolism].
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Celiac Disease; Child; Child, Preschool; Histidine; Humans; Hypoglycemia; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Lactose Intolerance; Leucine; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methionine; Phenylketonurias; Proteins; Tyrosine | 1974 |
Histidinaemia in mouse and man.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Disease Models, Animal; Female; Genes, Recessive; Histidine; Histidine Ammonia-Lyase; Homozygote; Humans; Intellectual Disability; Liver; Male; Mice; Movement Disorders; Mutation; Postural Balance; Vestibule, Labyrinth | 1974 |
Histidinaemic mutant in the mouse.
Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Female; Genes; Genotype; Heterozygote; Histidine; Histidine Ammonia-Lyase; Humans; Hybridization, Genetic; Imidazoles; Liver; Male; Mice; Movement Disorders; Mutation; Parity; Pregnancy; Sex Factors; Vestibule, Labyrinth | 1973 |
Ornithine carbamyl transferase: the effects of pH on the kinetics of a mutant human enzyme.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Binding Sites; Brain; Genes; Histidine; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Intestinal Mucosa; Kinetics; Liver; Male; Mutation; Ornithine Carbamoyltransferase; Spectrophotometry | 1972 |
[Methionine toxicity. 5. Amino acid content of blood serum and urine after high doses of methionine and gaseous elimination of 35S from 35S methionine].
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Glutathione; Glycine; Histidine; Lysine; Methionine; Phenylalanine; Rats; Sulfur Isotopes; Taurine; Threonine; Time Factors; Tyrosine | 1972 |
[Simple indirect histidase demonstration by means of needle biopsy of the liver].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Biopsy; Histidine; Histocytochemistry; Humans; Liver; Methods | 1972 |
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine; Cystinosis; Diagnosis, Differential; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Laboratory Techniques; Cystathionine; Cystinosis; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Methods; Methylmalonic Acid; Phenylketonurias; Proline; Propionates; Tyrosine | 1972 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine | 1973 |
[The inborn errors of metabolism of amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine | 1973 |
Histidinaemia: its significance in neonatal screening.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Histidine; Humans; Infant; Intellectual Disability | 1973 |
[Blood histidine and phenylketonuria from the standpoint of the speech therapist].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diet Therapy; Histidine; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Speech Disorders; Time Factors | 1973 |
[Histidinemia: biochemical anomaly or disease?].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Biopsy, Needle; Child, Preschool; Chromatography, Thin Layer; Genetics, Medical; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Liver; Mass Screening; Methods; Skin | 1973 |
Dietary correction of histidinemia in older children possible.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Creatinine; Diet Therapy; Dietary Proteins; Electroencephalography; Fasting; Histamine; Histidine; Humans; Imidazoles; Male | 1973 |
Genetic screening: notes added in proof.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates | 1973 |
Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Thin Layer; Histidine; Humans; Infant; Lysine; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
[A hereditary spastic paralysis in rabbits. II. Biochemical experiments; determination of a disorder in amino-acid metabolism].
Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Female; Genotype; Histidine; Male; Muscle Spasticity; Pantothenic Acid; Rabbits | 1973 |
Histidinemia and "normohistidinemic histidinuria". Report of three cases and the effect of different protein intakes on urinary excretion of histidine.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Dietary Proteins; Electrophoresis, Paper; Female; Histidine; Humans; Infant, Newborn; Male | 1974 |
Maternal histidinaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Phenylketonurias; Pregnancy; Psychological Tests | 1974 |
Histidinemia discovered by urine screening after renal transplantation.
Topics: Acrylates; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Cadaver; Female; FIGLU Test; Histidine; Humans; Imidazoles; Kidney Transplantation; Lyases; Skin; Sweat; Transplantation, Homologous | 1970 |
Studies on the effect of alpha-lipoic acid on disturbances in histidine metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Decarboxylation; Histidine; Humans; Ketoglutaric Acids; Stuttering; Thioctic Acid | 1971 |
Histidinemia: detection by routine newborn screening and biochemical observations on three unrelated cases.
Topics: Acetates; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Bacillus subtilis; Biological Assay; Chromatography; Diagnosis, Differential; Diet Therapy; False Positive Reactions; Female; Histidine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Male; Methods; Skin | 1971 |
An automated fluorometric procedure for histidine in blood.
Topics: Administration, Oral; Aldehydes; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chemistry, Clinical; Fluorometry; Histidine; Humans; Infant, Newborn; Kinetics; Methods; Phthalic Acids | 1972 |
The effect of a single oral dose of lysine or arginine on the excretion of free amino acids by the starved laying hen.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Chickens; Female; Glycine; Histidine; Isoleucine; Lysine; Ornithine; Serine; Starvation; Time Factors; Tyrosine | 1972 |
Histidinaemia. Study of relation between clinical and biological findings in 7 subjects.
Topics: Acetates; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Autistic Disorder; Child; Child, Preschool; Female; Histidine; Humans; Imidazoles; Infant; Intellectual Disability; Lactates; Lyases; Male; Pyruvates; Skin; Speech Disorders | 1972 |
[Histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Electroencephalography; Female; Histidine; Humans; Infant; Infant, Newborn | 1972 |
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycine; Histidine; Humans; Infant; Lysine; Mass Screening; Phenylketonurias; Proline | 1972 |
Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Paper; Costs and Cost Analysis; Fasting; Food; Histidine; Humans; Hyperlipidemias; Infant, Newborn; Mass Screening; Methionine; Midwifery; Phenylalanine; Phenylketonurias; Postal Service; Proline; Time Factors; Tyrosine; United Kingdom | 1972 |
Histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Histidine; Humans; Intellectual Disability | 1972 |
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Therapy; Economics, Medical; Follow-Up Studies; Galactosemias; Glycine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Multiphasic Screening; Phenylketonurias; Proline; Time Factors; Tyrosine | 1972 |
Absorption of amino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy; Celiac Disease; Dipeptides; Glycine; Hartnup Disease; Histidine; Humans; Infant; Intestinal Absorption; Intestine, Small; Jejunum; Male; Peptides; Tyrosine | 1972 |
Histamine formation in rat brain during development.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Brain; Carboxy-Lyases; Growth; Histamine; Histidine; Humans; Intellectual Disability; Rats; Tritium | 1971 |
[Occurrence of histidinemia: results of mass screening in 48,000 newborn infants].
Topics: Amino Acid Metabolism, Inborn Errors; Austria; Diet Therapy; Histidine; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening | 1971 |
Disorders of amino acid metabolism--1971.
Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease; Phenylketonurias; Urea | 1971 |
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transport; Child; Chromatography, Ion Exchange; Cystine; Erythrocytes; Glutamates; Glutathione; Glycine; Histidine; Homocystine; Homocystinuria; Humans; Infant; Maple Syrup Urine Disease; Methionine; Ornithine; Phenylketonurias; Plasma; Renal Tubular Transport, Inborn Errors; Serine; Spectrophotometry; Threonine; Tyrosine | 1971 |
An intravenous histidine load test for the detection of heterozygotes for histidinaemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Female; Genetics, Medical; Heterozygote; Histidine; Humans; Injections, Intravenous; Male; Metabolic Clearance Rate | 1971 |
Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded.
Topics: Acrylates; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Histidine; Humans; Hydro-Lyases; Imidazoles; Injections, Intravenous; Intellectual Disability; Liver; Lyases; Male; Oxidoreductases; Pneumoencephalography; Skin | 1971 |
Implications for clinical implementation of results of metabolic screening for amino acidopathies in the newborn.
Topics: Amino Acid Metabolism, Inborn Errors; Follow-Up Studies; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature, Diseases; Intellectual Disability; Mass Screening; Methionine; Proline | 1971 |
Early detection of phenylketonuria and other aminoacidopathies in a large city using plasma chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Histidine; Humans; Hyperlipidemias; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylketonurias; Proline; Tyrosine | 1971 |
[Paper chromatography in the detection of aminoacidopathies].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Glycine; Histidine; Humans; Maple Syrup Urine Disease; Phenylketonurias; Valine | 1971 |
[Routine thin-layer-chromatography in 25000 newborn infants. Comparison with the Guthrie-tests].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Mass Screening; Methionine; Methods; Phenylalanine; Tyrosine | 1971 |
Inborn metabolic disorders with associated ocular lesions in Northern Ireland.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Cataract; Child; Child, Preschool; Cornea; Eye Diseases; Female; Galactosemias; Hepatolenticular Degeneration; Histidine; Homocystinuria; Humans; Infant; Lens, Crystalline; Male; Myopia; Northern Ireland; Pigmentation Disorders; Renal Aminoacidurias | 1967 |
[Endogenous pellagra without hyperaminoaciduria].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Paper; Diagnosis, Differential; Electroencephalography; Glutamates; Glutamine; Hartnup Disease; Histidine; Humans; Lysine; Male; Pellagra; Serine; Skin Manifestations; Threonine | 1969 |
Histidinemia: report of four new cases in one family and the effect of low-Histidine diets.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Damage, Chronic; Child; Child, Preschool; Diet Therapy; Female; Histidine; Humans; Infant; Male; Pedigree; Psychological Tests | 1969 |
Epidermis in histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Biopsy; Child, Preschool; Epithelium; Histidine; Humans; Infant; Male; Microscopy, Electron; Photosensitivity Disorders; Radiation Effects; Skin; Ultraviolet Rays | 1969 |
A simple indirect method of detecting the enzyme defect in histidinemia.
Topics: Acrylates; Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Histidine; Humans; Imidazoles; Lyases; Methods; Skin | 1969 |
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopsy; Child; Chromatography, Paper; Chromosomes; Diet Therapy; Electromyography; Eye Diseases; Female; Genes, Recessive; Glycine; Histidine; Humans; Kidney Function Tests; Lysine; Male; Microscopy, Electron; Middle Aged; Muscles; Muscular Diseases; Pedigree; Pelvis | 1969 |
Histidinaemia and speech disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Histidine; Humans; Infant; Intellectual Disability; Language Development; Male; Speech Disorders | 1969 |
The disturbances of histidine metabolism in hereditary stammering.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans; Male; Stuttering | 1969 |
The simultaneous occurrence of histidinemia and congenital hypoplastic anemia.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Aplastic; Child; Child, Preschool; Cornea; Female; Histidine; Humans; Infant; Infant, Newborn; Lyases; Prednisone | 1969 |
Determination of platelet serotonin by a fluorimetric method.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood Platelets; Child; Child, Preschool; Female; Fluorometry; Histidine; Humans; Infant; Male; Methods; Phenylalanine; Phenylketonurias; Serotonin | 1970 |
Thin-layer chromatography of urinary imidazoles.
Topics: Amino Acid Metabolism, Inborn Errors; Cellulose; Child; Chromatography, Thin Layer; Histidine; Humans; Imidazoles; Methods | 1970 |
Paper chromatographic survey of urinary amino-acids in muscular dystrophy.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Chromatography, Paper; Female; Histidine; Humans; Lysine; Male; Middle Aged; Muscular Dystrophies; Threonine | 1970 |
Mammalian histidine ammonia lyase. In vivo inactivation and presence of an electrophilic center at the active site.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Binding Sites; Carbon Isotopes; Electrophoresis; Female; Histidine; Liver; Lyases; Methane; Mice; Nitrogen | 1970 |
A further ase of histidinaemia: clinical and biochemical aspects.
Topics: Adolescent; Africa; Amino Acid Metabolism, Inborn Errors; Amino Acids; Electroencephalography; Female; Histidine; Humans; Intellectual Disability; Motor Activity; Skin; Speech Disorders | 1970 |
Two-dimensional thin-layer chromatography on two-layer plates of amino acids.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cellulose; Chromatography, Thin Layer; Histidine; Humans; Metabolism, Inborn Errors; Methods; Solvents; Succinates | 1970 |
Speech and histidinemia: methodology and evaluation of four cases.
Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Audiometry; Child; Child, Preschool; Female; Histidine; Humans; Intellectual Disability; Intelligence Tests; Language Disorders; Male; Psychometrics; Speech Disorders | 1970 |
High-voltage electrophoresis in urinary amino acid screening.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ampicillin; Chromatography; Cystinuria; Electrophoresis; Glycine; Histidine; Homocystinuria; Humans; Hydrogen-Ion Concentration; Mass Screening; Methods; Phenylketonurias; Renal Aminoacidurias | 1970 |
Incorporation of 14C-leucine into brain protein in rats with hyperaminoacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Autoanalysis; Brain; Carbon Isotopes; Female; Glycine; Histidine; Injections, Intraperitoneal; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Protein Biosynthesis; Rats; Valine | 1970 |
Histidinaemia detected by newborn screening using Guthrie's method.
Topics: Amino Acid Metabolism, Inborn Errors; False Positive Reactions; Histidine; Humans; Infant, Newborn; Mass Screening | 1970 |
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias | 1970 |
Evidence for delayed histidine transamination in neonates with histidinemia.
Topics: Acetates; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chlorides; Chromatography, Paper; Female; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Iron; Lactates; Male; Pyruvates; Transaminases | 1971 |
Maternal histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Child Development; Child, Preschool; Female; Histidine; Humans; Male; Pregnancy; Pregnancy Complications | 1971 |
Histidinemia in a Negro child.
Topics: Amino Acid Metabolism, Inborn Errors; Black or African American; Child; Female; Histidine; Humans; Hyperkinesis; Imidazoles; Learning Disabilities; Lyases; Speech Disorders; Sweat | 1971 |
High-voltage thin-layer electrophoretic method for detecting histidinemia.
Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Cellulose; Electrophoresis; Histidine; Humans; Imidazoles; Lactates; Methods; Pyruvates | 1971 |
[Clinical and biochemical study of a case of histidinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography; Diagnosis, Differential; Female; Histidine; Humans; Infant; Infant, Newborn; Pedigree; Phenylketonurias; Skin | 1971 |
[Hyperaminoaciduria in children suffering from progressive muscular dystrophy].
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Child; Child, Preschool; Creatine; Creatinine; Female; Glutamates; Histidine; Humans; Leucine; Lysine; Male; Methionine; Muscular Dystrophies; Nitrogen; Phenylalanine; Serine; Threonine; Tryptophan; Tyrosine; Valine | 1967 |
[Study of amino-aciduria and amino-acidemia in children by chromato-ionophoresis].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Chromatography; Electrophoresis; Histidine; Humans; Phenylalanine; Tryptophan | 1967 |
A case of histidinemia controlled with a low histidine diet.
Topics: Amino Acid Metabolism, Inborn Errors; Blindness; Brain; Brain Damage, Chronic; Brain Diseases; Chromatography, Ion Exchange; Deafness; Diet Therapy; Dietary Proteins; Electrophoresis; Growth; Histidine; Humans; Infant; Intellectual Disability; Male; Serotonin | 1968 |
The effect of a histidine load on plasma levels and renal clearances of other amino acids.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Biological Transport, Active; Chromatography, Ion Exchange; Depression, Chemical; Fasting; Female; Histidine; Humans; Kidney Function Tests; Male; Metabolic Clearance Rate; Statistics as Topic; Stimulation, Chemical; Time Factors | 1968 |
[Disturbances in histidine metabolism in familial stuttering].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans; Male; Stuttering | 1968 |
A prospective community survey for aminoacidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Specimen Collection; Chromatography; England; Female; Histidine; Humans; Infant, Newborn; Mass Screening; Phenylketonurias; Pregnancy; Proline | 1968 |
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 |
Amino acid changes associated with febrile illness in a case of histidinaemia and in other children.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Communicable Diseases; Histidine; Humans; Infant; Meningitis; Respiratory Tract Infections; Urinary Tract Infections | 1968 |
Significance of dialysis against enzymes to the specific therapy of cancer and genetic deficiency diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginase; Dialysis; Histidine; Humans; Kidneys, Artificial; Metabolism, Inborn Errors; Neoplasms; Phenylketonurias; Rabbits | 1968 |
A simple screening test for histidinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Chelating Agents; Child; Child, Preschool; Cyclohexanes; Histidine; Humans; Infant; Intellectual Disability; Mass Screening; Methods | 1969 |
Histidinaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Histidine; Humans; Intellectual Disability; Lyases | 1969 |
Urinary amino acid and peptide excretion patterns in patients with muscular dystrophy (Duchenne). A preliminary study with the autoanalyzer.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Autoanalysis; Child; Child, Preschool; Glutamates; Glycine; Histidine; Humans; Isoleucine; Leucine; Lysine; Male; Muscular Dystrophies; Peptides; Phenylalanine; Serine; Threonine; Tyrosine; Valine | 1969 |
Hydroa vacciniforme occurring in association with Hartnup disease.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Paper; Erythema; Hartnup Disease; Histidine; Humans; Hydroa Vacciniforme; Indoles; Male; Photosensitivity Disorders | 1969 |
Investigation of ketoacidurias by two-dimensional paper chromatography.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Paper; Diet; Female; Histidine; Humans; Infant; Keto Acids; Male; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1969 |
Excretion of hydroxyproline and other amino acids in scorbutic guinea-pigs.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Animals; Autoanalysis; Body Weight; Collagen; Glycine; Guinea Pigs; Histidine; Hydroxyproline; Male; Scurvy; Starvation; Time Factors | 1969 |
Histidinemia.
Topics: Amino Acid Metabolism, Inborn Errors; Blood Chemical Analysis; Child; Child, Preschool; Consanguinity; Electroencephalography; Female; Histidine; Humans; Imidazoles; Intellectual Disability; Lyases; Male; Primidone; Pyruvates; Skin; Speech Disorders; Urine | 1965 |
Further case of histidinaemia.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood; Chromatography, Paper; Female; Histidine; Humans; In Vitro Techniques; Intellectual Disability; Lyases; Skin; Urine | 1966 |
Three new cases of Histidinemia. Clinical and biochemical data.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography; Chromatography, Paper; Diet; Female; Histidine; Humans; Intellectual Disability | 1966 |