phenylalanine has been researched along with Deficiency, Mental in 277 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 223 (80.51) | 18.7374 |
| 1990's | 24 (8.66) | 18.2507 |
| 2000's | 17 (6.14) | 29.6817 |
| 2010's | 11 (3.97) | 24.3611 |
| 2020's | 2 (0.72) | 2.80 |
| Authors | Studies |
|---|---|
| Bernatowicz, K; Giżewska, M; Krzywińska-Zdeb, E; Leśniak, A; Patalan, M; Romanowska, H; Walczak, M | 1 |
| Ahring, K; Bik-Multanowski, M; Casas, K; Didycz, B; Djordjevic, M; Hanley, WB; Hertecant, JL; Leuzzi, V; Mathisen, P; Nardecchia, F; Powell, KK; Rutsch, F; Stojiljkovic, M; Trefz, FK; Usurelu, N; van Karnebeek, CD; van Spronsen, FJ; van Vliet, D; van Wegberg, AMJ; Wilson, C | 1 |
| Çıkı, K; Dursun, A; Özgül, RK; Pektaş, E; Sivri, HS; Tokatlı, A; Yıldız, Y; Yücel Yılmaz, D | 1 |
| Bik-Multanowski, M; Didycz, B | 1 |
| Bigini, N; Cabib, S; Carducci, C; Colamartino, M; Gabucci, C; Leuzzi, V; Magnani, M; Pascucci, T; Pierigè, F; Puglisi-Allegra, S; Rossi, L; Sasso, V; Valzania, A; Ventura, R; Viscomi, MT | 1 |
| Ahring, K; Bik-Multanowski, M; Blau, N; Bulut, FD; Casas, K; Didycz, B; Djordjevic, M; Federico, A; Feillet, F; Gizewska, M; Gramer, G; Hanley, WB; Hertecant, JL; Hollak, CEM; Jørgensen, JV; Karall, D; Landau, Y; Leuzzi, V; Mathisen, P; Moseley, K; Mungan, NÖ; Nardecchia, F; Õunap, K; Powell, KK; Ramachandran, R; Rutsch, F; Setoodeh, A; Stojiljkovic, M; Trefz, FK; Usurelu, N; van Karnebeek, CD; van Spronsen, FJ; van Vliet, D; van Wegberg, AMJ; Wilson, C | 1 |
| Besson, G; Corne, C; Papassin, J; Pierunek, J | 1 |
| Chang, S; Chong, SC; Hui, J; Law, LK; Lee, LK; Yau, P; Yuen, YP | 1 |
| Anikster, Y; Ben-Zeev, B; Benoist, JF; Berutti, R; Blau, N; Bruggmann, R; Cremer, K; Dorboz, I; Engels, H; Gahl, WA; Gemperle-Britschgi, C; Guarani, V; Haack, TB; Harper, JW; Heimer, G; Hoffmann, GF; Huttlin, EL; Imbard, A; Keller, I; Landau, Y; Malicdan, MCV; Marek-Yagel, D; Martinez, A; Mayatepek, E; Meili, D; Meissner, T; Meitinger, T; Mullikin, JC; Opladen, T; Paulo, JA; Pode-Shakked, B; Prokisch, H; Schiff, M; Schwartz, G; Shen, N; Strom, TM; Thöny, B; Trefz, FK; Vilboux, T; Ziv-Strasser, L | 1 |
| Amos, A; Fitzgerald, B; Hoskin, R; Johnson, SM; Lee, P; Lilburn, M; Murphy, GH; Robertson, L; Weetch, E | 1 |
| Amos, A; Fitzgerald, B; Hoskin, R; Lee, PJ; Lilburn, M; Murphy, G; Robertson, L; Weetch, E | 1 |
| van Spronsen, F | 1 |
| Ben Dridi, MF; Dhondt, JL; El Asmi, M; Feki, M; Jemaa, R; Kaabachi, N; Khemir, S; Mebazaa, A; Sanhaji, H; Tebib, N | 1 |
| Duvekot, JJ; Hop, WC; Prick, BW | 1 |
| Aguiar, MJ; Borges, JM; Castro, IP; Chagas, HA; Starling, AL; Tibúrcio, J | 1 |
| Fonnesbeck, CJ; Krishnaswami, S; Lindegren, ML; McPheeters, ML; Reimschisel, T | 1 |
| Cederbaum, S | 1 |
| Barahimi, E; Moeini, H; Vallian, S | 1 |
| Cabib, S; Pascucci, T; Puglisi-Allegra, S; Romano, V; Ventura, R | 1 |
| JERVIS, GA | 2 |
| BESSMAN, SP; UDENFRIEND, S | 1 |
| BICKEL, H; GERRARD, J; HICKMANS, EM | 1 |
| BICKEL, H | 2 |
| CAWTE, JE | 1 |
| GRIFFITHS, R; MONCRIEFF, A; WOOLF, LI | 1 |
| HAMANN, I | 2 |
| BRAUDE, H | 1 |
| BLAINEY, JD; GULLIFORD, R | 1 |
| FITZPATRICK, TB; MIYAMOTO, M | 1 |
| BINKLEY, EL; CLADER, DE; DUMARS, KW; HASSELL, LL; HORNER, FA; STREAMER, CW | 1 |
| MEISTER, A; MOLDAVE, K; WALLACE, HW | 1 |
| BERRY, HK | 1 |
| HSIA, DY; HUANG, I; ROWLEY, WA | 1 |
| TASHIAN, RE | 1 |
| ZELLWEGER, H | 1 |
| GONCERZEWICZ, M | 2 |
| VANDEMAN, PR | 1 |
| BERRY, HK; GRANGER, M; SCHELL, C; SIMON, H | 1 |
| BOWER, BD; JEAVONS, PM | 1 |
| KLEINMAN, DS | 1 |
| COCHRANE, WA | 1 |
| FISHLER, K; KOCH, R; RAGSDALE, N; SCHILD, S | 1 |
| PAINE, RS | 1 |
| FREY, PW; ZICKEFOOSE, M | 1 |
| GROVES, R; SCHLOESSER, PT | 1 |
| PITT, D; WILMOT, AE | 1 |
| LANGDELL, JI | 1 |
| BAN, TA; LEHMANN, HE | 1 |
| ARMSTRONG, MD; TYLER, FH | 1 |
| Azen, C; Widaman, KF | 1 |
| Azen, C; Waisbren, SE | 1 |
| Boulat, O; Boulos, M; Guignard, JP; Matthieu, JM; Van Melle, G | 1 |
| BOREK, E; PRESCOTT, BA | 1 |
| DELAY, J; PICHOT, P | 1 |
| Cheng, LY; Chiu, PC; Hsiao, KJ; Lee, NC; Liu, TT; Niu, DM | 1 |
| Izumi, M; Nakabayashi, H; Owada, M; Yamazaki, H | 1 |
| Menkes, JH | 1 |
| Aldahmesh, MA; Khan, AO; Meyer, B | 1 |
| Hsia, DY; O'Flynn, ME; Tillman, P | 1 |
| Kelly, S; Swift, H | 1 |
| Huntley, CC; Stevenson, RE | 2 |
| Waisman, HA | 1 |
| Graw, RG; Koch, R | 1 |
| Hirsch, W; Mex, A; Vogel, F | 1 |
| Hudson, FP | 1 |
| Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y | 1 |
| Aziz, AA; Blair, JA; Leeming, RJ; Sylvester, PE | 1 |
| Bay, C; Kelts, D; Ney, D; Nyhan, WL; Schneider, JA | 1 |
| Hanley, WB; Netley, C; Rudner, HL | 1 |
| Friedman, S; Guthrie, R; Szymanski, HV | 1 |
| Blumstein, L; Levitsky, DA; Strupp, BJ | 1 |
| Levy, HL; Waisbren, SE | 2 |
| de Céspedes, C; Nanne, C; Orlich, J; Ortiz, D; Rodríguez, J; Rojas, E; Santisteban, I | 1 |
| Bartley, J; Beuhler, B; Lipson, A; O'Halloran, M; Walsh, D; Webster, W; Yu, J | 1 |
| Jarosch, E; Plöchl, E; Rittinger, O | 1 |
| Levy, HL; Mitchell, ML | 1 |
| Hitzeroth, HW; Mienie, LJ; Op't Hof, J; Reinecke, CJ | 1 |
| Cole, DE; Grenier, A; Houghton, SA; Laberge, C; Levy, HL; Scriver, CR | 1 |
| Clow, CL; Scriver, CR | 1 |
| Güttler, F | 1 |
| Lenke, RR; Levy, HL | 2 |
| Acosta, PB; Blaskovics, M; Cloud, H; Lis, E; Stroud, H; Wenz, E | 1 |
| Kirkman, HN | 1 |
| Máté, M; Somogyi, C; Szabó, L | 1 |
| Knoll, E; Scheibenreiter, S; Schön, R; Thalhammer, O; Wehle, E | 1 |
| Bliumina, MG; Gerasimova, NS; Kopylova, NV; Lebedev, BV; Sitnichenko, EI | 1 |
| Batshaw, ML; Bessman, SP; Valle, D | 1 |
| Loazyńska, B; Siwińska, A | 1 |
| Byrd, D; Olek, K; Wardenbach, P | 1 |
| Clarke, JT; d'Entremont, DM; Giffin, FD | 1 |
| Maties, M; Ugarte, JL; Ugarte, M | 1 |
| Arai, N; Ishizawa, S; Narisawa, K; Ogasawara, Y; Tada, K | 1 |
| Berlow, S; Fariello, RG; Gross, PT; Schuett, VE | 1 |
| Dhondt, JL; Farriaux, JP; Lacombe, A; Largillière, C; Puech, F; Valat, S | 1 |
| Griffiths, P; Harvie, A; Paterson, L | 1 |
| Barnes, PD; Levy, HL; Lobbregt, D; Poussaint, TY | 1 |
| Harvey, EL; Kirk, SF | 1 |
| Meyding-Lamadé, UK; Pietz, J; Schmidt, H | 1 |
| Anello, G; Biasucci, G; Bosco, P; Calí, F; Ceratto, N; Giovannini, M; Guldberg, P; Güttler, F; Luotti, D; Meli, C; Mollica, F; Palillo, L; Pavone, L; Riva, E; Romano, V | 1 |
| Ashton-Prolla, P; Giugliani, R; Jardim, LB; Palma-Dias, R; Silva, LC | 1 |
| Komada, S; Kuzuhara, S; Masuzugawa, S; Narita, Y; Taniguchi, A | 1 |
| Pogson, D | 1 |
| Owada, M | 2 |
| Cotton, RG; Forrest, SM; Pitt, DD; Ramus, SJ | 1 |
| Matsuishi, T; Yamashita, Y | 1 |
| Guldberg, P; Guttler, F; Koch, R; Moseley, K; Ning, J; Romstad, A | 1 |
| Kesby, G | 1 |
| Dalrymple-Smith, J; Fitzgerald, B; Hodgson, A; Keene, N; Morgan, J; Rollinson, R | 1 |
| Antonozzi, I; Bianchi, MC; Carducci, CA; Carducci, CL; Leuzzi, V; Tosetti, M | 1 |
| Cheng-LNing, Z; Weiming, Y; Yukio, F; Zhixing, W; Zhongshu, Z | 1 |
| al-Essa, MA; Ozand, PT; Rashed, MS | 1 |
| Chalmers, RA; Lawson, AM; Watts, RW | 1 |
| Clayton, BE; Smith, I; Wolff, OH | 1 |
| Farquhar, JW | 1 |
| Chamove, AS; Molinaro, TJ | 1 |
| Brady, RO | 2 |
| Bienfang, DC; Kuwabara, T; Pueschel, SM | 1 |
| Arinze, IJ; Patel, MS | 1 |
| Ballard, B | 1 |
| Cabalska, B; Czochańska, J; Wilmowska-Pietruszyńska, A; Zorska, K | 1 |
| Barashneva, SM; Ladodo, KS | 1 |
| Bessman, SP | 3 |
| Wrona, RM | 1 |
| Bessman, SP; Crawford, R; Fujimoto, A | 1 |
| Casey, RE; Zaleski, LA; Zaleski, W | 1 |
| Zammarchi, E | 1 |
| De Candussio, G; Desana, M; Morisio Guidetti, L | 1 |
| Beaff, D; Bielinski, S; Kirschenbaum, B; Lasser, AE; Schultz, BC | 1 |
| Hansen, H | 3 |
| Güttler, F; Wamberg, E | 1 |
| Bolodeoku, JO; Familusi, JB | 1 |
| Bliumina, MG | 1 |
| Justice, P; Smith, GF | 1 |
| Saugstad, LF | 2 |
| Elsas, LJ; Griffin, RF | 1 |
| Bulakhova, LA | 2 |
| al-Awadi, SA; al-Ghanim, MM; al-Najdi, K; el-Badramany, MH; Farag, TI; Girish, Y; Uma, R; Usha, R | 1 |
| Hoskin, RG; Howard, R; Sasitharan, T | 1 |
| Lyon, IC; Macfarlane, SD; Pullon, DH | 1 |
| Clarke, DJ; Yapa, P | 1 |
| Danks, DM; Pitt, DB | 1 |
| Bunsey, M; Himmelstein, S; Kesler, M; Levitsky, DA; Strupp, BJ | 1 |
| Hommes, FA | 1 |
| Kietduriyakul, V; Komkris, V; Leangphibul, P; Tongkittikul, K | 1 |
| Hirano, S; Kanamatsu, T; Nakai, K; Takagi, Y | 1 |
| Barclay, A; Walton, O | 1 |
| Lowitzer, AC | 1 |
| Gross-Selbeck, G; Hanefeld, F; Kohlschütter, A; Kruse, K; Rosskamp, R | 1 |
| Kietduriyakul, V; Leangphibul, P; Tongkittikul, K | 1 |
| Wachtel, U | 1 |
| Al-Awadi, SA; el-Khalifa, MY; Farag, TI; Naguib, KK; Teebi, AS | 1 |
| Dong, GZ | 1 |
| Alm, J; Bodegård, G; Larsson, A; Nyberg, G; Zetterström, R | 1 |
| Erbe, RW; Ghavami, M; Levy, HL | 1 |
| Miyatake, T; Nakano, R; Ohwada, M; Tanaka, K; Yoneda, M | 1 |
| Bush, RT; Dukes, PC | 1 |
| Winokur, B | 1 |
| Smith, I; Wolff, OH | 1 |
| Harper, PS | 1 |
| Davidson, W; Hackney, IM; Hanley, WB; Lindsao, L | 1 |
| O'Halloran, MT; Yu, JS | 1 |
| Polasa, H; Sharada, D | 1 |
| Narayanan, HS; Rao, BS; Reddy, GN | 1 |
| Partington, MW; Tu, J | 1 |
| Partington, MW; Vickery, SK | 1 |
| Steinhausen, HC | 1 |
| Fekete, G | 1 |
| Angeli, E; Denman, AR; Harris, RF; Kirman, BH; Stern, J | 1 |
| Wilson, JM | 1 |
| Frézal, J | 1 |
| Bühner, R; Bührlen, E; Byrd, D; Kochen, W | 1 |
| Auerbach, VH; Grover, WD; Patel, MS | 1 |
| Benson, J; Gurry, DL; Helgeland, L; Simpson, M | 1 |
| Hansen, S; Perry, TL; Richards, FM; Sokol, M; Tischler, B | 1 |
| Dinsmore, SR; Mrochek, JE; Ohrt, DW | 1 |
| Oldendorf, WH | 1 |
| Drásilová, L; Kaniová, V; Mrskos, A; Podhradská, O; Snopková, J | 1 |
| Dallaire, L; Massicotte, P; Mongeau, JG; Morin, CL; Robillard, JE | 1 |
| Iivanainen, M; Palo, J; Savolainen, H | 1 |
| Blyumina, MG | 1 |
| Boda, D; Havass, Z; Soltysiak, J; Szabó, L | 1 |
| Fuller, R | 1 |
| Svatý, J | 1 |
| Hsia, DY | 2 |
| Yu, JS | 1 |
| Howell, RR; Stevenson, RE | 1 |
| Nigam, MP; Paine, RS; Watson, CW | 1 |
| Chamove, AS; Harlow, HF; Kerr, GR; Waisman, HA | 1 |
| Princivalle, M; Vetrone, G | 1 |
| Mrskos, A | 1 |
| Hyánek, J | 1 |
| Johnson, CF | 2 |
| Hagge, W | 1 |
| Cockcroft, WH; Lowry, RB; Renwick, DH; Tischler, B | 1 |
| Ballester, L; Callens, G; Callens, M; Duquennoy, C; Gaudier, B; Ponté, C | 1 |
| Davison, AN | 1 |
| Oldendorf, WH; Silverstein, A; Sisson, BW | 1 |
| Brown, ES; Waisman, HA | 1 |
| Howell, RR; Parmley, TH; Stevenson, RE; Thomas, GH | 1 |
| Lines, DR; Waisman, HA | 1 |
| Tada, K; Takada, G | 1 |
| Colombo, JP | 1 |
| Alpers, DH; Bartoscas, CS; Bixby, EM; Shih, VE; Thier, SO | 1 |
| Hill, A; Zaleski, WA | 1 |
| Costantini, ML; Grannis, GF; Gruemer, HD; Hetland, LB | 1 |
| Stevenson, R | 1 |
| Van der Hoeven, T; Woolley, DW | 1 |
| D'iachkova, AIa; Lebedev, BV | 1 |
| Aviad, Y; Berman, W; Cohen, BE; Crispin, M; Goland, R; Hirshorn, N; Szeinberg, A | 1 |
| Hessing, J; Schweikhardt, F | 1 |
| Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B | 1 |
| Houghton, SA; Karolkewicz, V; Levy, HL; MacCready, RA | 1 |
| Howell, RR | 1 |
| Cabalska, B; Duczyńska, N | 1 |
| Hudson, FP; Leahy, I; Mordaunt, VL | 1 |
| Foust, M; Lonsdale, D | 1 |
| Konno, T; Mochizuki, K; Nakagawa, H; Tada, K; Yoshida, T | 1 |
| Kahn, LI | 1 |
| Davidson, W; Hanley, WB; Linsao, L; Moes, CA | 1 |
| Ermolaev, MV; Ermolov, AS; Milova, GN; Pokrovskiĭ, AA; Usacheva, NT | 1 |
| Agrawal, HC; Bone, AH; Davison, AN | 1 |
| Mitoma, C; Pryor, GT | 1 |
| Boisse, J; Brissaud, H; Lemonnier, A; Mozziconacci, P | 1 |
| Gerald, PS; Kang, ES; Sollee, ND | 1 |
| Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC | 1 |
| Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P; Saudubray, JM | 1 |
| Berman, JL; Hsia, DY; O'Flynn, ME; Partington, MW; Vickery, SK; Wong, PW | 1 |
| Bickel, H; Kaiser-Grubel, S | 1 |
| Colombo, JP; Humbel, R; Rossi, E; Vassella, F | 1 |
| Hsia, D; O'Flynn, ME | 1 |
| Woolf, LI | 1 |
| Dobson, J; Frankenburg, W; Hudson, F; Koch, R; O'Flynn, M; Spector, R; Warner, R; Williamson, M | 1 |
| Berman, JL; Hsia, DY; O'Flynn, ME | 1 |
| Williams, R | 1 |
| Coffelt, RW; Coldwell, JG; Duncan, BR; Frankenburg, WK; Koch, R; Son, CD | 1 |
| Cohn, GH; Efron, ML; Moser, HW; Ouellette, EM | 1 |
| Ammaniti, M | 1 |
| Efron, ML; Fellers, FX; Kang, ES; Visakorpi, J | 1 |
| Berman, JL; Cunningham, GC; Day, RW; Ford, R; Hsia, DY | 1 |
| Brachfeld, K; Svatý, J; Tresohlavá, Z | 1 |
| Charpentier, C; Leluc, R; Lemonnier, A | 1 |
| Attal, C; Boisse, J; Leluc, R; Mozziconacci, P | 1 |
| Perez, VJ | 1 |
| Anderson, JA; Fisch, RO; Walker, WA | 1 |
| Berry, HK; Sutherland, BS; Umbarger, B | 1 |
| Juul, P | 1 |
26 review(s) available for phenylalanine and Deficiency, Mental
| Article | Year |
|---|---|
Can untreated PKU patients escape from intellectual disability? A systematic review.
Topics: Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias | 2018 |
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies.
Topics: Congenital Abnormalities; Developmental Disabilities; Facial Bones; Female; Humans; Infant, Newborn; Infant, Small for Gestational Age; Intellectual Disability; Microcephaly; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pregnancy Trimesters; Skull | 2012 |
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
Topics: Adolescent; Adult; Child; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Young Adult | 2013 |
Phenylketonuria: an update.
Topics: Animals; Genotype; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Molecular Biology; Neonatal Screening; Phenylalanine; Phenylketonurias | 2002 |
PHENYLKETONURIA. A REVIEW OF SOME DEFICITS IN OUR INFORMATION.
Topics: Blood Chemical Analysis; Brain; Brain Damage, Chronic; Brain Injuries; Child; Diagnosis; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Pathology; Phenylalanine; Phenylketonurias; Statistics as Topic | 1964 |
Phenylketonuria: epitome of human biochemical genetics (first of two parts).
Topics: Animals; Biopterins; Brain; Chromosome Mapping; Female; Homeostasis; Humans; Intellectual Disability; Liver; Mutation; Myelin Proteins; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy | 1980 |
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.
Topics: Amino Acid Metabolism, Inborn Errors; Genetic Carrier Screening; Humans; Infant, Newborn; Intellectual Disability; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Terminology as Topic | 1980 |
[Maternal phenylketonuria].
Topics: Female; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prognosis | 1998 |
[Maternal PKU fetal effects].
Topics: Abnormalities, Multiple; Diet; Female; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Prenatal Exposure Delayed Effects; Prognosis; Syndrome | 2000 |
Inherited metabolic diseases and pathogenesis of mental retardation.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Carbohydrate Metabolism, Inborn Errors; Cytochrome Reductases; Deoxyglucose; Dihydrolipoamide Dehydrogenase; Energy Metabolism; Gangliosides; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Phenylalanine; Pyruvate Dehydrogenase Complex Deficiency Disease | 1978 |
Phenylketonuria: metabolic alterations induced by phenylalanine and phenylpyruvate.
Topics: Amino Acids; Animals; Brain; Energy Metabolism; Humans; Intellectual Disability; Lipids; Liver; Nerve Tissue Proteins; Neurotransmitter Agents; Nucleic Acids; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1975 |
[Diet therapy successes in treating hereditary metabolic diseases in children].
Topics: Age Factors; Amino Acids; Body Weight; Child, Preschool; Diet; Dietary Proteins; Energy Intake; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1978 |
The justification theory: the essential nature of the non-essential amino acids.
Topics: Amino Acids; Diet; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; United States | 1979 |
The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Blood-Brain Barrier; Brain; Humans; Intellectual Disability; Phenylalanine | 1989 |
Maternal phenylketonuria: cause for concern among women with PKU.
Topics: Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1987 |
Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe.
Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Biopterins; Diet; Dietary Proteins; Dihydropteridine Reductase; Europe; Female; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant; Infant, Newborn; Intellectual Disability; Liver; Mass Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Prognosis; Pterins; Tyrosine | 1986 |
Current trends and problems in health screening.
Topics: Autoanalysis; Blood Glucose; Clinical Laboratory Techniques; Costs and Cost Analysis; Female; Humans; Intellectual Disability; Iron; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Statistics as Topic; Uric Acid | 1973 |
Hyperphenylalaninemia and pregnancy.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Female; Haplorhini; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Male; Mass Screening; Microcephaly; Phenylalanine; Pregnancy; Pregnancy Complications | 1972 |
Psychological results in treated phenylketonuria. I. Gesell findings.
Topics: Adolescent; Age Factors; Child; Child Development; Child, Preschool; Diet Therapy; Follow-Up Studies; Humans; Infant; Intellectual Disability; Intelligence Tests; Interpersonal Relations; Language Development; Methods; Motor Skills; Phenylalanine; Phenylketonurias; Psychological Tests; Time Factors | 1967 |
[Problems around phenylketonuria].
Topics: Diet Therapy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
Phenylketonuria and its variants.
Topics: Adult; Child, Preschool; Congenital Abnormalities; Female; Gene Frequency; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1970 |
Phenylketonuria: a review.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Mass Screening; Minerals; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Time Factors; Transaminases; Vitamins | 1970 |
Results of dietary treatment in phenylketonuria.
Topics: Age Factors; Child; Child, Preschool; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Time Factors | 1971 |
The offspring of phenylketonuric women.
Topics: Abortion, Spontaneous; Adult; Birth Weight; Black or African American; Brain Chemistry; Breast Feeding; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Glutamine; Heart Auscultation; Heterozygote; Hexokinase; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Male; Maryland; Microcephaly; Myelin Sheath; Nerve Tissue Proteins; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Pyruvate Kinase; Umbilical Cord | 1971 |
Malnutrition with early treatment of phenylketonuria.
Topics: Age Factors; Body Height; Body Weight; Child Development; Deficiency Diseases; Diet Therapy; Humans; Infant; Infant Nutrition Disorders; Infant, Newborn; Intellectual Disability; Intelligence Tests; Mass Screening; Phenylalanine; Phenylketonurias | 1971 |
Biochemical factors in mental retardation.
Topics: 5-Hydroxytryptophan; Animals; Brain Chemistry; Diet Therapy; Female; Guinea Pigs; Haplorhini; Humans; Infant; Intellectual Disability; Intelligence Tests; Male; Metabolism, Inborn Errors; Monoamine Oxidase; Phenylalanine; Phenylketonurias; Rats; Serotonin; Tryptophan; Tyrosine | 1967 |
1 trial(s) available for phenylalanine and Deficiency, Mental
| Article | Year |
|---|---|
Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet.
Topics: Adult; Cross-Over Studies; Diet, Protein-Restricted; Double-Blind Method; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Prospective Studies; Social Behavior Disorders; United Kingdom; Young Adult | 2009 |
250 other study(ies) available for phenylalanine and Deficiency, Mental
| Article | Year |
|---|---|
Patient with Phenylketonuria and Intellectual Disability-Problem Not Always Caused Exclusively by Insufficient Metabolic Control (Coexistence of PKU and Alazami Syndrome).
Topics: Humans; Intellectual Disability; Male; Microcephaly; Phenotype; Phenylalanine; Phenylketonurias | 2022 |
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?
Topics: Adolescent; Adult; Brain; Child; Delayed Diagnosis; Female; Humans; Individuality; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Young Adult | 2019 |
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Developmental Disabilities; Female; Genetic Variation; HSP40 Heat-Shock Proteins; Humans; Infant, Newborn; Intellectual Disability; Male; Muscle Hypotonia; Neurotransmitter Agents; Phenylalanine; Phenylalanine Hydroxylase; Protein Isoforms | 2021 |
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria.
Topics: Adolescent; Child; Female; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Wechsler Scales | 2017 |
A new therapy prevents intellectual disability in mouse with phenylketonuria.
Topics: Administration, Intravenous; Anabaena; Animals; Brain Chemistry; Disease Models, Animal; Drug Delivery Systems; Drug Evaluation, Preclinical; Erythrocytes; Female; Intellectual Disability; Male; Mice; Mice, Knockout; Motor Activity; Phenylalanine; Phenylalanine Ammonia-Lyase; Phenylketonurias; Recombinant Proteins | 2018 |
Phenylketonuria, an unusual diagnosis of mental retardation in an adult patient.
Topics: Brain; Consanguinity; Female; Humans; Intellectual Disability; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias; Young Adult | 2015 |
One too many: intellectual disability secondary to undiagnosed phenylketonuria.
Topics: Child, Preschool; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias | 2016 |
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Topics: Alleles; Amino Acid Sequence; Biopterins; Case-Control Studies; Dopamine; Dystonia; Exons; Female; Fibroblasts; Gene Deletion; Genome-Wide Association Study; HSP70 Heat-Shock Proteins; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Repressor Proteins; Serotonin; Tryptophan; Tryptophan Hydroxylase; Tyrosine; Tyrosine 3-Monooxygenase | 2017 |
Adults with untreated phenylketonuria: out of sight, out of mind.
Topics: Adult; Aged; Dietary Supplements; Female; Health Surveys; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; United Kingdom; Young Adult | 2008 |
Adults with late diagnosed PKU and severe challenging behaviour.
Topics: Adult; Brain; Cross-Over Studies; Double-Blind Method; Evidence-Based Medicine; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Randomized Controlled Trials as Topic; Social Behavior Disorders; Treatment Outcome | 2009 |
Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.
Topics: Age of Onset; Amino Acids; Child, Preschool; Developmental Disabilities; Female; Gas Chromatography-Mass Spectrometry; Health Services Accessibility; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Neonatal Screening; Phenylalanine; Phenylketonurias; Pigmentation Disorders; Retrospective Studies; Speech Disorders; Tunisia | 2011 |
Relationships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria.
Topics: Analysis of Variance; Child; Female; Humans; Intellectual Disability; Intelligence; Logistic Models; Male; Phenylalanine; Phenylketonurias; Social Class; Wechsler Scales | 2012 |
Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan.
Topics: Chromatography, High Pressure Liquid; Gene Frequency; Humans; Institutionalization; Intellectual Disability; Iran; Leukocytes; Mass Screening; Microbial Sensitivity Tests; Mutation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Restriction Mapping | 2003 |
The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria.
Topics: Animals; Disease Models, Animal; Emotions; Exploratory Behavior; Genotype; Heterozygote; Homozygote; Humans; Intellectual Disability; Maze Learning; Mice; Mice, Inbred Strains; Phenylalanine; Phenylketonurias; Space Perception | 2003 |
Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system.
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1953 |
The hydroxylation of phenylalanine and antipyrine in phenylpyruvic oligophrenia.
Topics: Analgesics; Antipyrine; Humans; Hydroxylation; Intellectual Disability; Phenylalanine; Phenylketonurias | 1953 |
The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.
Topics: Child; Humans; Intellectual Disability; Ketosis; Phenylalanine; Urine | 1954 |
The effects of a phenylalanine-free and phenylalanine-poor diet in phenylpyruvic oligophrenis.
Topics: Diet; Intellectual Disability; Phenylalanine | 1954 |
Phenylketonuria.
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1954 |
Treatment of phenylketonuria with a diet low in phenylalanine.
Topics: Diet; Diet, Reducing; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1955 |
PHENYLPYRUVIC oligophrenia.
Topics: Diet; Humans; Intellectual Disability; Phenylalanine | 1956 |
[Some experiments on phenylalanine- and tyrosine metabolism in a patient with phenylpyruvic oligophrenia].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1956 |
Phenylketonuria; a case report in a European child treated with a diet low in phenylalanine.
Topics: Child; Diet; Ethnicity; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1956 |
Phenylalanine-restricted diets in the treatment of phenylketonuria.
Topics: Diet; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1956 |
Competitive inhibition of mammalian tyrosinase by phenylalanine and its relationship to hair pigmentation in phenylketonuria.
Topics: Animals; Hair; Humans; Intellectual Disability; Monophenol Monooxygenase; Phenylalanine; Phenylketonurias; Pigmentation; Tyrosine | 1957 |
[Investigations of phenylalanine and tyrosine metabolism in a child with phenylpyruvic oligophrenia].
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine | 1956 |
Effect of phenylalanine-restricted diet in phenylketonuria. II.
Topics: Diet; Diet, Reducing; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1957 |
Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia.
Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1957 |
Paper chromatographic method for estimation of phenylalanine.
Topics: Chromatography, Paper; Intellectual Disability; Phenylalanine; Regression Analysis | 1957 |
The excretion of 5-hydroxyindoleacetic acid in the heterozygous carrier for phenylketonuria.
Topics: Biological Transport; Humans; Hydroxyindoleacetic Acid; Indoleacetic Acids; Intellectual Disability; Phenylalanine; Phenylketonurias | 1961 |
Inhibition of brain glutamic acid decarboxylase by phenylalanine, valine, and leucine derivatives: a suggestion concerning the etiology of the neurological defect in phenylketonuria and branched-chain ketonuria.
Topics: Amino Acids; Brain; Glutamate Decarboxylase; Humans; Intellectual Disability; Ketosis; Leucine; Lyases; Maple Syrup Urine Disease; Metabolic Diseases; Phenylalanine; Phenylketonurias; Valine | 1961 |
Aminoaciduria and mental retardation. II. Phenylpyruvic oligophrenia, phenylketonuria (PKU).
Topics: Amino Acid Metabolism, Inborn Errors; Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1961 |
[Studies on the enzymatic and genetic system in phenylalanine metabolism disorders].
Topics: Biochemical Phenomena; Enzymes; Geniculate Bodies; Humans; Intellectual Disability; Metabolic Diseases; Phenylalanine; Phenylketonurias; Tyrosine | 1962 |
TERMINATION OF DIETARY TREATMENT FOR PHENYLKETONURIA.
Topics: Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Psychology, Child | 1963 |
DETECTION OF PHENYLKETONURIA: AN INSTITUTIONAL SCREENING PROGRAM.
Topics: Blood Chemical Analysis; Humans; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias; Specimen Handling; Urine | 1963 |
PHENYLKETONURIA PRESENTING AS INFANTILE SPASMS WITH SUDDEN MENTAL DETEORIATION.
Topics: Adrenocorticotropic Hormone; Diet; Diet Therapy; Electroencephalography; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Spasm; Spasms, Infantile | 1963 |
NUTRITION RESEARCH IN PAEDIATRICS.
Topics: Canada; Child; Diet; Diet Therapy; Epilepsy; Epilepsy, Absence; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Pediatrics; Phenylalanine; Phenylketonurias; Pyridoxine; Research; Scurvy | 1964 |
CLINICAL ASPECTS OF PHENYLKETONURIA.
Topics: Child; Diet; Diet Therapy; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Physiological Phenomena | 1964 |
PHENYLKETONURIA.
Topics: Body Fluids; Caseins; Child; Diet; Diet Therapy; Eczema; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism; Microcephaly; Phenylalanine; Phenylketonurias; Urine | 1964 |
DIETARY TREATMENT OF PHENYLKETONURIA.
Topics: Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Metabolism; Phenylalanine; Phenylketonurias | 1964 |
A STATE PROGRAM TO CONTROL PHENYLKETONURIA.
Topics: Adolescent; Blood; Child; Diet; Diet Therapy; Genetics, Medical; Humans; Infant; Intellectual Disability; Kansas; Mass Screening; Phenobarbital; Phenylalanine; Phenylketonurias; Phenytoin; Public Health Nursing; Seizures | 1964 |
PHENYLKETONURIA IN VICTORIA.
Topics: Adolescent; Australia; Child; Diet; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pigmentation; Urine; Victoria | 1965 |
PHENYLKETONURIA: EIGHT-YEAR EVALUATION OF TREATMENT.
Topics: Brain; Brain Damage, Chronic; Child; Diet; Diet Therapy; Electroencephalography; Family; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Prognosis; Projective Techniques; Psychological Tests; Psychotherapy | 1965 |
SKIN PIGMENTATION, A RARE SIDE EFFECT OF CHLORPROMAZINE.
Topics: Chemical Phenomena; Chemistry; Chlorpromazine; Diagnosis, Differential; Drug Therapy; Epilepsy; Eye Manifestations; Intellectual Disability; Melanins; Melanosis; Pathology; Perphenazine; Phenobarbital; Phenylalanine; Photosensitivity Disorders; Pigmentation Disorders; Prochlorperazine; Schizophrenia; Skin Pigmentation; Toxicology | 1965 |
[CONTRIBUTION TO THE STUDY OF MENTAL DEFICIENCY ETIOLOGY IN CASES OF INBORN ERRORS OF PHENYLALANINE METABOLISM].
Topics: Biochemical Phenomena; Blood; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1965 |
AMINO acid metabolism and mental deficiency.
Topics: Biochemical Phenomena; Diet; Humans; Intellectual Disability; Phenylalanine | 1955 |
Studies on phenylketonuria. I. Restricted phenylalanine intake in phenylketonuria.
Topics: Body Fluids; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Urine | 1955 |
Relation of prenatal phenylalanine exposure to infant and childhood cognitive outcomes: results from the International Maternal PKU Collaborative Study.
Topics: Aptitude Tests; Child; Child Development; Child, Preschool; Female; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Linear Models; Longitudinal Studies; Male; Models, Statistical; Mutation; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Socioeconomic Factors | 2003 |
Cognitive and behavioral development in maternal phenylketonuria offspring.
Topics: Analysis of Variance; Case-Control Studies; Child; Child Behavior; Child Behavior Disorders; Child Development; Cognition; Female; Humans; Intellectual Disability; Intelligence; Logistic Models; Longitudinal Studies; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Psychological Tests; Socioeconomic Factors; Statistics, Nonparametric | 2003 |
Correlation between plasma and urine phenylalanine concentrations.
Topics: Adolescent; Adult; Aging; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Pilot Projects | 2004 |
Excretion of phenylalanine and derivatives in phenylpyruvic oligophrenia.
Topics: Biological Transport; Body Fluids; Intellectual Disability; Phenylalanine; Phenylketonurias | 1950 |
Studies on oligophrenia phenylpyruvica; microbiological determination of L- and D-phenylalanine and of phenyl lactic acid.
Topics: Acids; Body Fluids; Intellectual Disability; Lactic Acid; Phenylalanine; Phenylketonurias; Urine | 1949 |
[Metabolic disorders and hypopigmentation in phenylpyruvic oligophrenia].
Topics: Albinism, Oculocutaneous; Hair; Hypopigmentation; Intellectual Disability; Phenylalanine; Phenylketonurias; Urine | 1950 |
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Biopterins; Child; Child, Preschool; China; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures; Time Factors | 2006 |
[Magnetic resonance imaging of the brain in phenylketonuria].
Topics: Adolescent; Adult; Biomarkers; Brain; Child; Child, Preschool; Humans; Intellectual Disability; Magnetic Resonance Imaging; Phenylalanine; Phenylketonurias | 2006 |
The history of hypertyrosinemia caused by high protein diets.
Topics: Dietary Proteins; Humans; Infant Food; Infant, Newborn; Intellectual Disability; Phenylalanine; Tyrosine; Tyrosinemias | 2006 |
Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.
Topics: Cysteine; Diagnostic Techniques, Ophthalmological; Eye Proteins; Female; Genes, Recessive; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Heterozygote; Humans; Intellectual Disability; Male; Molecular Biology; Mutation; Nerve Tissue Proteins; Pedigree; Phenylalanine; Prospective Studies; Retinal Diseases; Severity of Illness Index; Vitreoretinopathy, Proliferative | 2008 |
Hyperphenylalanemia without phenylketonuria.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Body Height; Body Weight; Diagnosis, Differential; Diet Therapy; Female; Growth; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Amino acid abnormalities in a mentally retarded population.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Female; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias | 1967 |
Children of phenylketonuric mothers.
Topics: Female; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1967 |
Congenital malformations in offspring of phenylketonuric mothers.
Topics: Abortion, Habitual; Adult; Birth Weight; Child; Child, Preschool; Congenital Abnormalities; Female; Heart Defects, Congenital; Hip Dislocation, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic; Strabismus | 1967 |
Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring.
Topics: Diet Therapy; Dietary Proteins; Female; Humans; Intellectual Disability; Phenylalanine; Pregnancy; Pregnancy Complications | 1967 |
Phenylketonuria in two American Negroes.
Topics: Black or African American; Child, Preschool; Diet Therapy; Eczema; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Psychology, Child; United States | 1967 |
Metabolic traits in mentally retarded children as compared with normal populations: Phenylalanine and tyrosine in serum and urine.
Topics: Adolescent; Child; Child, Preschool; Chromatography; Female; Humans; Intellectual Disability; Male; Phenylalanine; Tyrosine | 1967 |
Phenylketonuria.
Topics: Diet Therapy; Dietary Proteins; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence; Intelligence Tests; Male; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1967 |
Hypervalinemia. A defect in valine transamination.
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carbon Isotopes; Child, Preschool; Female; Fetal Diseases; Humans; Intellectual Disability; Isoleucine; Japan; Keto Acids; Leucine; Leukocytes; Methionine; Phenylalanine; Placenta; Pregnancy; Transaminases; Valine | 1967 |
Tetrahydrobiopterin metabolism in Down's syndrome and in non-Down's syndrome mental retardation.
Topics: Adult; Aged; Biopterins; Down Syndrome; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Pteridines | 1982 |
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child.
Topics: Adolescent; Adult; Ambulatory Care; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Phenylalanine; Seasons; Syndrome; Tyrosine | 1983 |
Phenylketonuria and its variants: observations on intellectual functioning.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Time Factors | 1984 |
Screening for phenylketonuria in chronic psychiatric inpatients.
Topics: Hospitals, Psychiatric; Humans; Intellectual Disability; Mental Disorders; Phenylalanine; Phenylketonurias | 1984 |
PKU, learning, and models of mental retardation.
Topics: Animals; Body Weight; Disease Models, Animal; Humans; Intellectual Disability; Learning; Phenylalanine; Phenylketonurias; Psychological Tests; Rats | 1984 |
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.
Topics: Abortion, Spontaneous; Birth Weight; Body Weight; Child; Child, Preschool; Congenital Abnormalities; Female; Fetal Blood; Fetus; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1983 |
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminoisobutyric Acids; Child; Costa Rica; Creatinine; Female; Glycine; Hearing Disorders; Humans; Intellectual Disability; Male; Mental Disorders; Phenylalanine; Speech Disorders | 1983 |
Maternal hyperphenylalaninemia fetal effects.
Topics: Adolescent; Adult; Child; Congenital Abnormalities; Face; Female; Fetal Growth Retardation; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Phenylalanine; Pregnancy; Pregnancy Complications; Strabismus | 1984 |
[Maternal phenylketonuria].
Topics: Child; Chromatography, Thin Layer; Female; Heterozygote; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1984 |
The current status of newborn screening.
Topics: Bacteriological Techniques; Blood Specimen Collection; Congenital Hypothyroidism; Humans; Hypothyroidism; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Phenylalanine; Phenylketonurias; Thyrotropin; Thyroxine; United States | 1982 |
Screening for inborn errors of metabolism among mentally retarded patients. Outcome of a surgery at the Witrand Care and Rehabilitation Centre.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Intellectual Disability; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; South Africa; Urine | 1983 |
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".
Topics: Female; Fetal Blood; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1980 |
Maternal phenylketonuria--results of dietary therapy.
Topics: Adult; Female; Fetal Diseases; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1982 |
Nutrition in pregnancy of women with hyperphenylalaninemia.
Topics: Abortion, Spontaneous; Congenital Abnormalities; Female; Fetal Death; Fetal Growth Retardation; Humans; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1982 |
Projections of a rebound in frequency of mental retardation from phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Gene Frequency; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Prognosis | 1982 |
[Maternal phenylketonuria syndrome: teratogenic effect of hyperphenylalaninemia].
Topics: Adult; Female; Fetal Growth Retardation; Genetic Counseling; Humans; Infant; Intellectual Disability; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Syndrome | 1982 |
[12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)].
Topics: Austria; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Psychometrics | 1980 |
[Relationship between the severity of brain damage in phenylketonuria and the degree of hyperphenylalaninemia].
Topics: Child; Child, Preschool; Epilepsy; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Risk; Syndrome | 1980 |
Unsuccessful treatment of phenylketonuria with tyrosine.
Topics: Adult; Child Development; Female; Food, Fortified; Humans; Infant, Newborn; Intellectual Disability; Intelligence Tests; Male; Neurologic Manifestations; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1981 |
[Effectiveness of treatment of phenylketonuria in a mentally retarded 2-year-old boy].
Topics: Age Factors; Child, Preschool; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias | 1981 |
[Excretion of transamination products in hyperphenylalaninemia (author's transl)].
Topics: Adult; Biogenic Amines; Female; Histidine; Humans; Intellectual Disability; Middle Aged; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan | 1980 |
Effect of dietary phenylalanine restriction on visual attention span in mentally retarded subjects with phenylketonuria.
Topics: Adolescent; Adult; Attention; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Vision, Ocular | 1980 |
The offspring of a phenylketonuric couple.
Topics: Adult; Child; Child Development; Female; Homozygote; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1980 |
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.
Topics: Abortion, Spontaneous; Birth Weight; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1980 |
A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Child; Female; Fibroblasts; Humans; Intellectual Disability; Liver; Male; NADH, NADPH Oxidoreductases; Phenylalanine; Phenylketonurias; Tomography, X-Ray Computed | 1980 |
EEG in phenylketonuria. Attempt to establish clinical importance of EEG changes.
Topics: Adolescent; Adult; Child; Child, Preschool; Electroencephalography; Evoked Potentials; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Seizures | 1981 |
The Maternal Phenylketonuria Collaborative Study: a status report.
Topics: Abortion, Spontaneous; Adolescent; Adult; Congenital Abnormalities; Embryonic and Fetal Development; Female; Follow-Up Studies; Gestational Age; Humans; Infant, Low Birth Weight; Infant, Newborn; Intellectual Disability; Nutritional Physiological Phenomena; Phenylalanine; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy; Pregnancy Outcome; Prospective Studies | 1994 |
[Embryofetopathy of the newborn infant of a phenylketonuric mother. A diagnosis not to be missed].
Topics: Adult; Female; Fetal Diseases; Fetal Growth Retardation; Heart Septal Defects; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1993 |
[The pediatrician and early detection of hyperphenylalaninemia. Study Group on Hyperphenylalaninemia)].
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Phenylalanine | 1993 |
Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria.
Topics: Adolescent; Adult; Brain Damage, Chronic; Child; Female; Follow-Up Studies; Humans; Intellectual Disability; Male; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Scotland | 1995 |
Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
Topics: Adolescent; Agenesis of Corpus Callosum; Brain; Child; Corpus Callosum; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Mothers; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Exposure Delayed Effects | 1996 |
The use of a low phenylalanine diet in response to the challenging behaviour of a man with untreated phenylketonuria and profound learning disabilities.
Topics: Adult; Aggression; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior Disorders; Social Environment; Treatment Outcome | 1995 |
Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency.
Topics: Adolescent; Brain; Evoked Potentials, Somatosensory; Female; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Phenylalanine; Phenylketonurias; Pterins | 1996 |
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Genotype; Humans; Infant, Newborn; Intellectual Disability; Male; Neonatal Screening; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Psychometrics; Sicily | 1996 |
Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.
Topics: Adult; Female; Humans; Intellectual Disability; Intelligence; Maternal-Fetal Exchange; Microcephaly; Middle Aged; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1996 |
[A case report of mild from of phenylketonuria].
Topics: Adult; Biomarkers; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pteridines; Tremor | 1996 |
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Genes, Recessive; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior | 1997 |
Genotype and intellectual phenotype in untreated phenylketonuria patients.
Topics: Amino Acid Substitution; Dinucleotide Repeats; Genetic Markers; Genotype; Haplotypes; Humans; Intellectual Disability; Intelligence; Minisatellite Repeats; Mutation; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Sequence Deletion; Victoria; White People | 1999 |
[Neurochemical and neurotransmitter studies in patients with learning disabilities].
Topics: Attention Deficit Disorder with Hyperactivity; Autistic Disorder; Child; Humans; Intellectual Disability; Learning Disabilities; Methoxyhydroxyphenylglycol; Phenylalanine | 1999 |
Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.
Topics: Adult; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Time Factors; Treatment Outcome | 1999 |
Repeated adverse fetal outcome in pregnancy complicated by uncontrolled maternal phenylketonuria.
Topics: Adult; Female; Fetal Diseases; Humans; Intellectual Disability; Phenylalanine; Phenylketonuria, Maternal; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Syndrome | 1999 |
An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability.
Topics: Adult; Age Factors; Diet, Protein-Restricted; Female; Humans; Intellectual Disability; Male; Middle Aged; Monitoring, Physiologic; Patient Compliance; Phenylalanine; Phenylketonurias; Prospective Studies; Treatment Outcome | 2000 |
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.
Topics: Adolescent; Adult; Brain Chemistry; Chromatography, High Pressure Liquid; Female; Humans; Intellectual Disability; Magnetic Resonance Spectroscopy; Male; Phenotype; Phenylalanine; Phenylketonurias; Time Factors | 2000 |
Clinical analysis of West syndrome associated with phenylketonuria.
Topics: Brain; Child, Preschool; Cohort Studies; Female; Humans; Incidence; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Myelin Sheath; Phenylalanine; Phenylketonurias; Prognosis; Retrospective Studies; Spasms, Infantile | 2001 |
Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.
Topics: Adult; Child; Chromatography, High Pressure Liquid; Female; Humans; Intellectual Disability; Male; Mass Spectrometry; Phenylalanine; Retrospective Studies; Tyrosine; Tyrosinemias | 1999 |
Abnormal organic acidurias in mentally retarded patients.
Topics: Acidosis; Acids; Adult; Benzoates; Child; Chromatography, Gas; Citrates; Female; Glycolates; Homovanillic Acid; Humans; Hydroxybutyrates; Intellectual Disability; Ketoglutaric Acids; Lactates; Male; Malonates; Mass Spectrometry; Metabolism, Inborn Errors; Phenylacetates; Phenylalanine; Phenylketonurias; Specimen Handling; Succinates | 1975 |
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
Topics: Biopterins; Child; Child, Preschool; Deglutition Disorders; Dihydropteridine Reductase; Female; Humans; Infant; Intellectual Disability; Male; Neuromuscular Diseases; Phenylalanine; Phenylketonurias; Seizures; Tyrosine | 1975 |
Conception in a phenylketonuric woman.
Topics: Adult; Child; Congenital Abnormalities; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First | 1979 |
The growing problems of phenylketonuria.
Topics: Age Factors; Child, Preschool; Female; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy | 1979 |
Monkey retardate learning analysis.
Topics: Age Factors; Animals; Choice Behavior; Conditioning, Operant; Diet; Discrimination Learning; Disease Models, Animal; Frontal Lobe; Haplorhini; Humans; Inhibition, Psychological; Intellectual Disability; Macaca mulatta; Phenylalanine; Phenylketonurias | 1978 |
The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.
Topics: Adolescent; Conjunctiva; Cornea; Corneal Opacity; Endothelium; Epithelium; Humans; Inclusion Bodies; Intellectual Disability; Keratoderma, Palmoplantar; Male; Parakeratosis; Phenylalanine; Syndrome; Tyrosine | 1976 |
Phenylketonuria--a mother's viewpoint.
Topics: Adaptation, Psychological; Adult; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Mothers; Phenylalanine; Phenylketonurias | 1977 |
[Neurological status and psychomotor development of children with phenylketonuria treated early].
Topics: Child; Child, Preschool; Female; Follow-Up Studies; Humans; Hyperkinesis; Infant; Infant, Newborn; Intellectual Disability; Male; Nervous System; Phenylalanine; Phenylketonurias; Psychomotor Agitation; Psychomotor Performance; Time Factors | 1979 |
A clinical epidemiologic study of hyperphenylalaninemia.
Topics: Child, Preschool; Female; Humans; Intellectual Disability; Male; Ohio; Phenylalanine; Phenylketonurias; Regression Analysis; Retrospective Studies; Risk | 1979 |
Relative inability of mother and child to convert phenylalanine of tyrosine--a possible cause of nonspecific mental retardation.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Heterozygote; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1979 |
Maternal phenylketonuria: dietary treatment during pregnancy.
Topics: Adult; Child Development; Dietary Proteins; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Pregnancy Trimester, Second | 1979 |
[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy].
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1977 |
[Studies of blood phenylalanine in oligophrenic adults and severely mentally retarded children].
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Humans; Intellectual Disability; Italy; Middle Aged; Phenylalanine; Phenylketonurias | 1977 |
Phenylketonuria and scleroderma.
Topics: Child; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Scleroderma, Localized; Tryptophan | 1978 |
Variability of reproductive casualty in maternal phenylalaninemia.
Topics: Abortion, Therapeutic; Birth Weight; Congenital Abnormalities; Female; Fetal Death; Humans; Intellectual Disability; Intelligence; Male; Parents; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Risk | 1978 |
Inherited metabolic diseases of the nervous system.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glutathione; Glycine; Glycogen Storage Disease Type II; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nerve Tissue Proteins; Nervous System Diseases; Phenylalanine; Phenylketonurias | 1976 |
Fasting serum phenylalanine in untreated institutionalised patients with phenylketonuria.
Topics: Adolescent; Adult; Age Factors; Aged; Diet Therapy; Dietary Proteins; Fasting; Female; Hospitalization; Humans; Intellectual Disability; Intelligence; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1977 |
Blood phenylalanine levels in mentally retarded African children: a study of 138 patients from Ibadan, Nigeria.
Topics: Black People; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Nigeria; Phenylalanine; Phenylketonurias | 1976 |
[Obstetrical problems of phenylketonuria].
Topics: Adult; Female; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Diagnosis | 1976 |
Phenylketonuria.
Topics: Female; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1975 |
Frequency of phenylketonuria in Norway.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Consanguinity; Female; Genetics, Population; Homozygote; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Norway; Pedigree; Phenylalanine; Phenylketonurias; Sex Ratio | 1975 |
Classic phenylketonuria: diagnosis through heterozygote detection.
Topics: Adolescent; Adult; Chromatography, Ion Exchange; Consanguinity; Female; Genetic Counseling; Genotype; Heterozygote; Homozygote; Humans; Intellectual Disability; Male; Phenotype; Phenylalanine; Phenylketonurias; Statistics as Topic; Tyrosine | 1975 |
Prevention of mental retardation due to PKU: selected aspects of program validity.
Topics: Child Health Services; Comprehensive Health Care; Diet Therapy; Evaluation Studies as Topic; False Negative Reactions; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Risk; Time Factors; United States | 1975 |
[The relationship between hyperphenylalaninemia and mental retardation].
Topics: Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Mental Disorders; Phenylacetates; Phenylalanine; Phenylketonurias; Tyrosine | 1975 |
Late diagnosis of phenylketonuria in a Bedouin mother.
Topics: Abortion, Habitual; Adult; Child, Preschool; Female; Fetal Diseases; Heart Defects, Congenital; Humans; Infant; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1992 |
The use of a low phenylalanine diet with amino acid supplement in the treatment of behavioural problems in a severely mentally retarded adult female with phenylketonuria.
Topics: Adult; Amino Acids; Dietary Proteins; Female; Food, Fortified; Hospitalization; Humans; Intellectual Disability; Personality Assessment; Phenylalanine; Phenylketonurias; Social Behavior | 1992 |
Maternal phenylketonuria.
Topics: Child; Child, Preschool; Developmental Disabilities; Diseases in Twins; Female; Humans; Infant; Intellectual Disability; Intelligence; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy | 1990 |
Agoraphobia in phenylketonuria.
Topics: Adult; Agoraphobia; Female; Humans; Intellectual Disability; Longitudinal Studies; Male; Phenylalanine; Phenylketonurias | 1991 |
Phenylketonuria and anorexia nervosa.
Topics: Adult; Anorexia Nervosa; Body Image; Body Weight; Epilepsies, Partial; Feeding Behavior; Female; Humans; Intellectual Disability; Patient Compliance; Phenylalanine; Phenylketonurias; Social Behavior Disorders | 1991 |
The natural history of untreated phenylketonuria over 20 years.
Topics: Activities of Daily Living; Adult; Aged; Epilepsy, Tonic-Clonic; Female; Follow-Up Studies; Health Status; Humans; Intellectual Disability; Male; Middle Aged; Muscle Spasticity; Phenylalanine; Phenylketonurias | 1991 |
Cognitive profile of rats exposed to lactational hyperphenylalaninemia: correspondence with human mental retardation.
Topics: Animals; Animals, Newborn; Attention; Brain; Discrimination Learning; Female; Intellectual Disability; Lactation; Male; Orientation; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Retention, Psychology; Social Behavior; Social Environment; Transfer, Psychology | 1990 |
The incidence of phenylketonuria in Thailand.
Topics: Adolescent; Adult; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Thailand | 1989 |
Aspartame. Review of safety issues. Council on Scientific Affairs.
Topics: Adolescent; Adult; Animals; Aspartame; Aspartic Acid; Brain Chemistry; Brain Diseases; Brain Neoplasms; Carbonated Beverages; Carcinogens; Child; Dietary Carbohydrates; Diketopiperazines; Dipeptides; Drug Stability; Endocrine System Diseases; Female; Glutamates; Glutamic Acid; Humans; Infant; Intellectual Disability; Methanol; Mice; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Piperazines; Pregnancy; Rats | 1985 |
Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain.
Topics: 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase; 2',3'-Cyclic-Nucleotide Phosphodiesterases; Animals; Brain; Discrimination Learning; Female; Gestational Age; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Phosphoric Diester Hydrolases; Pregnancy; Rats; Rats, Inbred Strains | 1985 |
Phenylketonuria: implications of initial serum phenylalanine levels on cognitive development.
Topics: Child Development; Child, Preschool; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias | 1988 |
Hyperphosphatasia with mental retardation.
Topics: Alkaline Phosphatase; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Psychomotor Performance | 1988 |
Study of phenylketonuria incidence in Thai children.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Thailand | 1988 |
Phenylketonuria in Kuwait and Arab countries.
Topics: Adolescent; Adult; Child; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Kuwait; Male; Middle Aged; Middle East; Phenylalanine; Phenylketonurias | 1987 |
[Clinical analysis of 74 cases of phenylketonuria and hyperphenylalanemia].
Topics: Adolescent; Age Factors; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Prognosis | 1986 |
Children with inborn errors of phenylalanine metabolism: prognosis and phenylalanine tolerance.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Male; Mass Screening; Phenylalanine; Phenylketonurias; Prognosis; Sweden | 1986 |
Prevention of fetal damage through dietary control of maternal hyperphenylalaninemia.
Topics: Adolescent; Animals; Child; Child, Preschool; Female; Fetal Diseases; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1986 |
[A case of impaired dihydrobiopterin synthesis with marked diurnal fluctuation].
Topics: Adult; Biopterins; Circadian Rhythm; Humans; Intellectual Disability; Male; Movement Disorders; Phenylalanine; Phenylketonurias | 1986 |
Women with phenylketonuria: successful management of pregnancy and implications.
Topics: Adolescent; Adult; Congenital Abnormalities; Female; Humans; Infant, Newborn; Intellectual Disability; Male; Microcephaly; New Zealand; Patient Education as Topic; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy in Adolescence; Time Factors | 1985 |
Birthweights in children with phenylketonuria and in their siblings.
Topics: Birth Weight; Body Height; Female; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Norway; Parity; Phenylalanine; Phenylketonurias; Pre-Eclampsia; Pregnancy; Pregnancy Complications; Uterine Hemorrhage | 1972 |
Subnormality and its relation to psychiatry.
Topics: Adult; Brain; Child; Child Development; Chromosome Aberrations; Chromosome Disorders; Homocystinuria; Humans; Intellectual Disability; Intelligence; Mental Disorders; Metabolism, Inborn Errors; Norepinephrine; Phenethylamines; Phenylalanine; Phenylketonurias; Psychoanalysis; Psychophysiologic Disorders; Psychotic Disorders; Schizophrenia; Serotonin; Sex Chromosome Aberrations | 1974 |
Natural history of phenylketonuria and influence of early treatment.
Topics: Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Time Factors | 1974 |
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities.
Topics: Cystathionine; Diseases in Twins; Glutamine; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1973 |
Phenylketonuria: mental development, behavior, and termination of low phenylalanine diet.
Topics: Adolescent; Age Factors; Autistic Disorder; Child Behavior Disorders; Developmental Disabilities; Diet Therapy; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Psychological Tests | 1968 |
Children of mothers with phenylketonuria.
Topics: Adolescent; Adult; Child; Child, Preschool; Diet Therapy; Family Planning Services; Female; Growth Disorders; Heart Defects, Congenital; Heterozygote; Homozygote; Humans; Intellectual Disability; Male; Microcephaly; Middle Aged; Phenylalanine; Phenylketonurias; Seizures; Strabismus; Tyrosine | 1970 |
Letter: Screening for phenylketonuria in mental retardates in Hyderabad using Guthrie's test.
Topics: Adolescent; Bacillus subtilis; Biological Assay; Child; Child, Preschool; Humans; India; Intellectual Disability; Phenylalanine; Phenylketonurias | 1974 |
A clinical and biochemical survey of 729 cases of mental subnormality.
Topics: Angiomatosis; Child; Child, Preschool; Congenital Hypothyroidism; Down Syndrome; Female; Hartnup Disease; Humans; India; Infant; Intellectual Disability; Laurence-Moon Syndrome; Lipidoses; Male; Marfan Syndrome; Microcephaly; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Sex Factors; Syphilis, Congenital | 1971 |
5-hydroxyindole levels in the blood and CSF in Down's syndrome, phenylketonuria and severe mental retardation.
Topics: Adolescent; Adult; Child; Child, Preschool; Down Syndrome; Female; Humans; Hydroxyindoleacetic Acid; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Pneumoencephalography; Serotonin | 1972 |
Phenylketonemia in phenylketonuria.
Topics: Adolescent; Adult; Animals; Biopsy; Brain; Child; Child, Preschool; Diet Therapy; Female; Heterozygote; Humans; Infant, Newborn; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Rats | 1974 |
Psychological evaluation of treatment in phenylketonuria: intellectual, motor and social development.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Diet Therapy; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Motor Skills; Phenylalanine; Phenylketonurias; Psychological Tests; Social Behavior | 1974 |
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain Chemistry; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Leucine; Methionine; Phenylalanine; Phenylketonurias; Rats; Tyrosine; Valine | 1974 |
Maternal phenylketonuria: a family with seven mentally retarded siblings.
Topics: Abnormalities, Multiple; Birth Weight; Dwarfism; Electroencephalography; Female; Humans; Intellectual Disability; Intelligence; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tetralogy of Fallot | 1974 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines; Tetrahydrofolate Dehydrogenase | 1972 |
[Proceedings: Tryptophan metabolism in untreated phenylketonuria and in vitamin B6 dependent cramps].
Topics: 3-Hydroxyanthranilic Acid; Adolescent; Adult; Carboxylic Acids; Child; Child, Preschool; Humans; Hydroxyquinolines; Intellectual Disability; Kynurenic Acid; Kynurenine; Muscle Cramp; Nicotinic Acids; Phenylalanine; Phenylketonurias; Tryptophan; Vitamin B 6 Deficiency; Xanthurenates | 1972 |
Pyruvate metabolism by homogenates of human brain: effects of phenylpyruvate and implications for the etiology of the mental retardation in phenylketonuria.
Topics: Bicarbonates; Brain; Carbon Isotopes; Decarboxylation; Humans; In Vitro Techniques; Intellectual Disability; Ketone Oxidoreductases; Ligases; Mitochondria; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates | 1973 |
Phenylketonuria in children in special and remedial classes. A survey in Perth.
Topics: Australia; Biological Assay; Child; Dyslexia; Humans; Intellectual Disability; Male; Mass Screening; Phenylalanine; Phenylketonurias | 1973 |
Unrecognized adult phenylketonuria. Implications for obstetrics and psychiatry.
Topics: Adult; Child; Chlorides; Female; Heterozygote; Humans; Intellectual Disability; Intelligence; Iron; Male; Middle Aged; Pedigree; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy; Pregnancy Complications; Psychotic Disorders | 1973 |
Monitoring phenylalanine-tyrosine metabolism by high-resolution liquid chromatography of urine.
Topics: Aromatic Amino Acid Decarboxylase Inhibitors; Autistic Disorder; Carbidopa; Catechols; Child; Chromatography, Gas; Chromatography, Ion Exchange; Dihydroxyphenylalanine; Hippurates; Homovanillic Acid; Humans; Hyperkinesis; Intellectual Disability; Lactates; Mandelic Acids; Mass Spectrometry; Methods; Nervous System Diseases; Parkinson Disease; Phenylacetates; Phenylalanine; Spectrophotometry, Ultraviolet; Tyrosine | 1973 |
Risk of fetal damage in maternal phenylketonuria.
Topics: Brain Damage, Chronic; Diet Therapy; Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1973 |
Saturation of blood brain barrier transport of amino acids in phenylketonuria.
Topics: Amino Acids; Animals; Arginine; Blood-Brain Barrier; Brain; Carbon Isotopes; Dihydroxyphenylalanine; Female; Histidine; Humans; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Methionine; Ornithine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine | 1973 |
Impaired glucose homeostasis in phenylketonurics.
Topics: Adolescent; Blood Glucose; Brain Diseases; Child; Child, Preschool; Glucose; Glucose Tolerance Test; Homeostasis; Humans; Hypoglycemia; Infant; Intellectual Disability; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Starvation; Time Factors | 1973 |
[Lowe's syndrome: multisystemic transport defects].
Topics: Abnormalities, Multiple; Amino Acids; Bicarbonates; Biological Transport; Carbohydrate Metabolism; Child, Preschool; Eye Diseases; Globulins; Glomerular Filtration Rate; Glucose; Humans; Hydrogen-Ion Concentration; Infant; Intellectual Disability; Intestinal Absorption; Kidney Tubules; Male; Phenylalanine; Renal Aminoacidurias; Syndrome; Xylose | 1973 |
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study.
Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine | 1973 |
A study of phenylketonuric sibs.
Topics: Abortion, Spontaneous; Chromatography, Paper; Epilepsy; Female; Gene Frequency; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy | 1973 |
[Phenylketonuria screening tests in Hungary].
Topics: Child, Preschool; Diet Therapy; Female; Humans; Hungary; Infant; Infant, Newborn; Intellectual Disability; Male; Mass Screening; Neurologic Manifestations; Phenylalanine; Phenylketonurias | 1974 |
Electroencephalographic abnormalities in phenylpyruvic oligophrenia.
Topics: Adolescent; Adult; Cerebral Cortex; Child; Child, Preschool; Electroencephalography; Epilepsy, Absence; Female; Humans; Intellectual Disability; Light; Male; Middle Aged; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta).
Topics: Amino Acids; Animals; Animals, Newborn; Birth Weight; Diet; Female; Fetal Diseases; Haplorhini; Humans; Intellectual Disability; Learning; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Serine; Tyrosine | 1968 |
Present status of different mass screening procedures for phenylketonuria. Medical Research Council Working Party on phenylketonuria.
Topics: Age Factors; Bacillus subtilis; Blood Specimen Collection; Brain Damage, Chronic; Chromatography, Paper; Heel; Humans; Infant; Infant, Newborn; Intellectual Disability; Mandelic Acids; Mass Screening; Methods; Phenylacetates; Phenylalanine; Phenylketonurias; United Kingdom | 1968 |
[Microbiological determination of phenylalanine in the blood in a group of oligophrenic children].
Topics: Bacillus subtilis; Biological Assay; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias | 1967 |
[Biochemistry of phenylketonuria].
Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1972 |
[Hyperphenylalaninemia and other hyperaminoacidurias with mental retardation, detected by multiple screening].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Tyrosine | 1972 |
What is the best age to discontinue the low phenylalanine diet in phenylketonuria? A presentation of some contributory data.
Topics: Adolescent; Age Factors; Behavior; Child; Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence; Intelligence Tests; Male; Methods; Phenylalanine; Phenylketonurias; Time Factors; Tyrosine; Visual Perception | 1972 |
[Amino acid metabolism and mental retardation].
Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionine; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxine | 1972 |
Incidence of phenylketonuria in British Columbia, 1950-1971.
Topics: Aneuploidy; British Columbia; Chromatography, Paper; Ethnicity; Female; Health Surveys; Humans; Intellectual Disability; Male; Mass Screening; Phenylalanine; Phenylketonurias; Sex Factors | 1972 |
Phenylketonuria and the obstetrician.
Topics: Abnormalities, Multiple; Abortion, Therapeutic; Adolescent; Adult; Birth Weight; Child; Child, Preschool; Diet Therapy; Eugenics; Family Planning Services; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Iowa; Mass Screening; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1972 |
[Delayed intrauterine growth with microcephaly in 3 children born of a hyperphenylalaninemic mother].
Topics: Abortion, Spontaneous; Adult; Child; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Fetal Diseases; Growth Disorders; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Microcephaly; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications, Hematologic | 1972 |
Mental retardation and the biochemistry of the developing brain.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Glycine; Humans; Intellectual Disability; Myelin Sheath; Phenylalanine; Protein Biosynthesis; Rats; Synapses | 1972 |
Brain uptake of selenomethionine Se 75. II. Reduced brain uptake of selenomethionine Se 75 in phenylketonuria.
Topics: Blood-Brain Barrier; Brain; Humans; Injections, Intravenous; Intellectual Disability; Methionine; Phenylalanine; Phenylketonurias; Radioisotopes; Radiometry; Selenium | 1971 |
Mental retardation in four offspring of a hyperphenylalaninemic mother.
Topics: Adolescent; Adult; Child; Child Development; Diet; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care | 1971 |
Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria.
Topics: Adult; Amino Acids; Amniotic Fluid; Chromatography; Congenital Abnormalities; Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1971 |
Placental transport of phenylalanine in the rat: maternal and fetal metabolism.
Topics: Animals; Diet Therapy; Fasting; Female; Fetus; Humans; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Placenta; Pregnancy; Pregnancy Complications; Rats | 1971 |
[Brain protein synthesis in experimental hyperaminoacidemia--an approach to the pathogenesis of mental retardation in inborn errors of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Carbon Isotopes; Chromatography, Thin Layer; Humans; Injections, Intraperitoneal; Intellectual Disability; Leucine; Nerve Tissue Proteins; Phenylalanine; Rats | 1971 |
Plasma glutamine in a phenylketonuric family with normal and mentally defective members.
Topics: Adolescent; Adult; Electroencephalography; Female; Glutamine; Humans; Intellectual Disability; Intelligence; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1971 |
Studies of intestinal transport defect in Hartnup disease.
Topics: Adolescent; Biological Transport; Carbon Isotopes; Child; Culture Techniques; Feces; Genes, Recessive; Hartnup Disease; Humans; Intellectual Disability; Intestinal Mucosa; Jejunum; Leucine; Lysine; Male; Methionine; Phenylalanine; Proline; Tryptophan | 1971 |
Tyrosinosis: biochemical studies of an unusual case.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, Gas; Chromatography, Paper; Diet; Female; Humans; Intellectual Disability; Phenylalanine; Tyrosine | 1971 |
Amino acid transport and mental retardation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Transport; Brain; Brain Chemistry; Diet; Female; Fetus; Gestational Age; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Time Factors | 1971 |
Microcephaly and mental retardation in offspring of a mother with phenylketonuria.
Topics: Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Microcephaly; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Seizures | 1971 |
Serotonin deficiency in infancy as a cause of a mental defect in experimental phenylketonuria.
Topics: 5-Hydroxytryptophan; Animals; Animals, Newborn; Chlorpromazine; Electroshock; Female; Humans; In Vitro Techniques; Intellectual Disability; Learning; Male; Melatonin; Mice; Neurosecretion; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Reserpine; Serotonin; Tryptamines; Tyrosine; Urine | 1965 |
[Some indices of phenylalanine and tyrosine metabolism in children with phenylketonuria].
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Consanguinity; Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Tyrosine | 1969 |
[Amino acid excretion in urine and enzyme activities in blood of persons from 3 families with mental deficiency].
Topics: Acid Phosphatase; Adolescent; Adult; Alanine; Alkaline Phosphatase; Amino Acids; Aspartate Aminotransferases; Aspartic Acid; Chromatography, Thin Layer; Enzymes; Erythrocytes; Female; Glucosephosphate Dehydrogenase; Glutamates; Glycine; Humans; Intellectual Disability; L-Lactate Dehydrogenase; Leukocytes; Male; Middle Aged; Pedigree; Phenylalanine; Spectrophotometry; Tyrosine | 1969 |
Maternal phenylketonuria. Course of two pregnancies.
Topics: Adult; Amniotic Fluid; Birth Weight; Chromatography; Female; Growth; Heart Defects, Congenital; Hemorrhage; Humans; Infant, Newborn; Intellectual Disability; Lung; Lymphangiectasis; Male; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine; Umbilical Cord; Vagina | 1969 |
Glutamine depletion in phenylketonuria. A possible cause of the mental defect.
Topics: Adult; Amino Acids; Diet Therapy; Female; Glutamine; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Tryptophan | 1970 |
Screening the "normal" population in Massachusetts for phenylketonuria.
Topics: Adolescent; Adult; Aged; Amino Acids; Diet Therapy; Female; Humans; Intellectual Disability; Male; Mass Screening; Massachusetts; Phenylalanine; Phenylketonurias; Tyrosine | 1970 |
Phenylketonuria in the general population.
Topics: Child; Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Massachusetts; Phenylalanine; Phenylketonurias | 1970 |
Phenyketonuria. Evaluation of early treatment.
Topics: Age Factors; Body Height; Body Weight; Diet Therapy; Electroencephalography; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1970 |
Evaluation of treatment begun in first three mohs oflife in 184 cases of phenylketonuria.
Topics: Adolescent; Body Height; Body Weight; Cephalometry; Child; Child, Preschool; Diet Therapy; Female; Follow-Up Studies; Humans; Intellectual Disability; Intelligence Tests; Male; Parents; Phenylalanine; Phenylketonurias | 1970 |
Normal mental development in treated phenylketonuria. Report of ten cases.
Topics: Body Weight; Cephalometry; Diet Therapy; Emotions; Female; Head; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Male; Parent-Child Relations; Phenylalanine; Phenylketonurias; Time Factors | 1970 |
Two siblings of hyperphenylalaninemia: suggestion to a genetic variant of phenylketonuria.
Topics: Amino Acids; Carbon Isotopes; Chromatography; Humans; Infant; Intellectual Disability; Liver; Male; Mixed Function Oxygenases; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine | 1970 |
From the Clinical Conference St. Louis Children's Hospital. Phenylketonuria. Diagnostic and therapeutic dilemma.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan; Tyrosine | 1970 |
Malnutrition with early treatment of phenylketonuria.
Topics: Anemia; Bone Diseases, Developmental; Child, Preschool; Deficiency Diseases; Diet Therapy; Growth Disorders; Humans; Hypoproteinemia; Infant; Intellectual Disability; Nutrition Disorders; Phenylalanine; Phenylketonurias | 1970 |
[Determination of phenylalanine hydroxylase activity in liver tissue].
Topics: Animals; Child; Guinea Pigs; Humans; Intellectual Disability; Liver; Mice; Microchemistry; Mixed Function Oxygenases; Phenylalanine; Rabbits; Rats | 1970 |
Effect of phenylalanine on protein synthesis in the developing rat brain.
Topics: Acetates; Age Factors; Animals; Brain; Carbon Isotopes; Female; Glycine; Humans; Intellectual Disability; Leucine; Male; Methionine; Myelin Sheath; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Rats; Sulfur Isotopes | 1970 |
Use of p-chlorophenylalanine to induce a phenylketonuric-like condition in rats.
Topics: Animals; Body Weight; Brain; Disease Models, Animal; Female; Humans; Intellectual Disability; Learning; Mixed Function Oxygenases; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Rats; Serotonin; Swimming | 1970 |
Results of dietary control in phenylketonuria.
Topics: Diet Therapy; Humans; Infant; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias | 1970 |
[How to detect avoidable mental retardation?].
Topics: Diet Therapy; Humans; Intellectual Disability; Intelligence Tests; Mass Screening; Phenylalanine; Phenylketonurias | 1970 |
Results of treatment and termination of the diet in phenylketonuria (PKU).
Topics: Age Factors; Child; Child, Preschool; Diet Therapy; Dietary Proteins; Female; Humans; Infant; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Sex Factors; Time Factors | 1970 |
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children.
Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1970 |
Phenylalaninaemia or classical phenylketonuria (PKU)?
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias | 1970 |
[Evaluation of the activity of a phenylketonuria detection center. Analysis of the results of 500,000 tests].
Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Paper; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias; Preventive Health Services; Tyrosine | 1971 |
Glutamine in pku.
Topics: Autoanalysis; Chromatography, Ion Exchange; Fluorometry; Glutamine; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1971 |
[Phenylketonuria. Psychometric assessment of the phenylalanine-poor diet in children with phenylketonuria].
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Diet Therapy; Female; Follow-Up Studies; Germany, West; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Psychometrics; Time Factors | 1971 |
Phenylketonuria, a family study. Borderline intelligence in two siblings with mentally retarded children.
Topics: Adolescent; Adult; Female; Genotype; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Tyrosine | 1967 |
Some observations on the dietary treatment of phenylketonuria.
Topics: Age Factors; Child, Preschool; Diet Therapy; Humans; Infant; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
Mass screening of the newborn for metabolic disease.
Topics: Automation; Diet Therapy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; United Kingdom; United States | 1968 |
Cognitive development and dietary therapy in phenylketonuric children.
Topics: Child; Child, Preschool; Cognition; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Language Development; Male; Phenylalanine; Phenylketonurias | 1968 |
PKU--some skepticism.
Topics: Diet Therapy; Humans; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias | 1968 |
[On the distribution and clinical characteristics of phenylpyruvic oligophrenia].
Topics: Adolescent; Adult; Brain Injuries; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pregnancy | 1968 |
Atypical phenylketonuria with borderline or normal intelligence.
Topics: Female; Humans; Intellectual Disability; Intelligence; Male; Pedigree; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids | 1968 |
Maternal phenylketonuria.
Topics: Adult; Child; Child, Preschool; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias | 1968 |
Maternal phenylketonuria: implications for growth and development.
Topics: Abnormalities, Multiple; Adult; Birth Weight; Body Height; Body Weight; Child; Child Development; Child, Preschool; Embryonic and Fetal Development; Female; Gestational Age; Growth; Heterozygote; Humans; Infant; Intellectual Disability; Intelligence Tests; Male; Microcephaly; Middle Aged; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1968 |
Atypical phenylketonuria in a seven-year-old profoundly retarded girl: development of phenylalanine tolerance, in spite of apparently continued failure to convert phenylalanine to tyrosine.
Topics: Adolescent; Drug Tolerance; Female; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1968 |
[Diagnostic problems in a dysphasic subject with an error of phenylalanine metabolism].
Topics: Child, Preschool; Epilepsy; Humans; Infant; Intellectual Disability; Language Disorders; Male; Movement Disorders; Phenylalanine; Phenylketonurias; Seizures; Speech Disorders | 1968 |
Effect of elevated plasma phenylalanine levels on other amino acids in phenylketonuric and normal subjects.
Topics: Adolescent; Adult; Amino Acids; Child; Female; Humans; Injections, Intravenous; Intellectual Disability; Kidney Tubules; Male; Phenylalanine; Phenylketonurias | 1969 |
Causes for high phenylalanine with normal tyrosine in newborn screening programs.
Topics: Amino Acids; Child; Child, Preschool; Chromosomes; Diet Therapy; Genes, Recessive; Humans; Infant; Infant, Newborn; Intellectual Disability; Intelligence Tests; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine; United States | 1969 |
[Our experiences with treatment of phenylketonuria].
Topics: Child, Preschool; Diet Therapy; Electroencephalography; Humans; Infant; Intellectual Disability; Intelligence Tests; Interprofessional Relations; Methods; Phenylalanine; Phenylketonurias; Time Factors | 1969 |
The newborn phenylketonuria screening program in Ontario.
Topics: Child Health Services; Community Health Services; Diagnostic Services; Diet Therapy; Humans; Infant, Newborn; Intellectual Disability; Mass Screening; Ontario; Phenylalanine; Phenylketonurias | 1969 |
[Biochemical and analytical bases of the exploration of phenylalanine metabolism].
Topics: Humans; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine | 1964 |
["Borderline" forms of phenylketonuria].
Topics: Adolescent; Child, Preschool; Humans; Infant; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan | 1964 |
Phenylketonuria or phenylpyruvic oligophrenia in the rat: behavioural and biochemical correlates.
Topics: Animals; Female; Humans; Injections, Intraperitoneal; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Rats | 1965 |
Maternal phenylketonuria.
Topics: Adult; Child; Diet; Female; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications | 1966 |
Prenatal and postnatal developmental consequences of maternal phenylketonuria.
Topics: Adult; Birth Weight; Congenital Abnormalities; Female; Fetal Diseases; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine | 1966 |
PKU laws, a model for the future?
Topics: Blood; Child; Child, Preschool; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias | 1966 |
Detection of phenylketonuria in newborn infants.
Topics: Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine | 1966 |
Quantitative measurement of individual free amino acids in urine by means of high voltage paper electrophoresis. Investigations of a group of mentally retarded patients.
Topics: Adolescent; Adult; Aged; Amino Acids; Chromatography, Ion Exchange; Cystinuria; Electrophoresis; Female; Humans; Intellectual Disability; Male; Middle Aged; Phenylalanine; Phenylketonurias | 1966 |