tyrosine and Intellectual Disability

tyrosine has been researched along with Intellectual Disability in 106 studies

Research

Studies (106)

Timeframe	Studies, this research(%)	All Research%
pre-1990	91 (85.85)	18.7374
1990's	10 (9.43)	18.2507
2000's	1 (0.94)	29.6817
2010's	3 (2.83)	24.3611
2020's	1 (0.94)	2.80

Authors

Authors	Studies
Dong, B; Ouyang, X; Wang, Z; Wu, B; Yang, X	1
Calvo-Medina, R; de Diego-Otero, Y; el Bekay, R; Garcia-Guirado, F; Lima-Cabello, E; Perez-Costillas, L; Quintero-Navarro, C; Sanchez-Salido, L	1
Aznar-Laín, G; Gonzalez-Sepulveda, M; Gracia-Rubio, I; Marcos, J; Pérez-Jurado, LA; Pozo, OJ; Renau, N; Segura, J; Valverde, O; Ventura, R	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
BALIS, ME; DANCIS, J	1
HAMANN, I	2
FITZPATRICK, TB; MIYAMOTO, M	1
MEISTER, A; MOLDAVE, K; WALLACE, HW	1
BERGER, H	1
GONCERZEWICZ, M	2
CITTERIO, C; CUNEGO, A	1
FINCKE, ML	1
ARMSTRONG, MD; SHAW, KN	1
Menkes, JH	1
Hsia, DY; O'Flynn, ME; Tillman, P	1
Hirsch, W; Mex, A; Vogel, F	1
Martin-Du Pan, RC; Wurtman, RJ	1
Anton-Lamprecht, I; Bohnert, A	1
Goldsmith, LA	2
Bay, C; Kelts, D; Ney, D; Nyhan, WL; Schneider, JA	1
Jyothy, A; Reddy, PP	1
Levy, HL; Waisbren, SE	1
Jarosch, E; Plöchl, E; Rittinger, O	1
Cole, DE; Grenier, A; Houghton, SA; Laberge, C; Levy, HL; Scriver, CR	1
Acosta, PB; Blaskovics, M; Cloud, H; Lis, E; Stroud, H; Wenz, E	1
Erickson, AM; Kaplan, GN; Levy, HL	1
Bessman, SP; Choi, H; Tomaszewski, L	1
Batshaw, ML; Bessman, SP; Valle, D	1
Lenke, RR; Levy, HL	1
Aramaki, S; Kato, H; Soda, H; Yoshida, I; Yukizane, S	1
al-Hazzaa, SA; al-Hemidan, AI	1
Jimenez-Acosta, F	1
Bergoend, H; Delaporte, E; le Flohic, X; Piette, F; Podglajen-Wecxsteen, O	1
el-Badramany, MH; Farag, TI; Fawzy, AR	1
Caruso, U; Cerone, R; Holme, E; Maritano, L; Romano, C; Schiaffino, MC	1
Bessman, SP	3
Endo, F	1
al-Essa, MA; Ozand, PT; Rashed, MS	1
Butler, IJ; Koslow, SH	1
Goddé-Jolly, D; Larregue, M; Roussat, B; Van Effenterre, G	1
Clayton, BE; Smith, I; Wolff, OH	1
Goldsmith, LA; Reed, J	1
Gallasch, G; Jaeger, W; Lutz, P; Schmidt, H; Schnyder, UW	2
Antener, I; Faggioni, R; Gautier, E; Pelet, B; Spahr, A	1
Bienfang, DC; Kuwabara, T; Pueschel, SM	1
Bressieux, JM; de Giacomoni, P; Larrègue, M; Odièvre, M	1
Bessman, SP; Crawford, R; Fujimoto, A	1
Zammarchi, E	1
Reinecke, CJ	1
Ritsner, MS	1
Hitchcock, ES; Hunt, PA; Mamunes, P; Prince, PE; Thornton, NH	1
Elsas, LJ; Griffin, RF	1
Bulakhova, LA	1
al-Awadi, SA; al-Ghanim, MM; al-Najdi, K; el-Badramany, MH; Farag, TI; Girish, Y; Uma, R; Usha, R	1
Babbini, N; Crovato, F; Desirello, G; Gatti, R; Rebora, A	1
Wachtel, U	1
Hill, A; Murray, RG; Zaleski, WA	1
O'Halloran, MT; Yu, JS	1
Baden, HP; Bienfang, DC; Gerald, P; Goldsmith, LA; Jimbow, K; Kang, E	1
Donnell, GN; Koch, R; Lieberman, E; Shaw, KN	1
Fekete, G	1
Aleshko, VS; Ritsner, MS	1
Hill, A; Kushniruk, W; Zaleski, WA	1
Dinsmore, SR; Mrochek, JE; Ohrt, DW	1
Oldendorf, WH	1
Svatý, J	1
Hsia, DY	2
Chamove, AS; Harlow, HF; Kerr, GR; Waisman, HA	1
Mrskos, A	1
Hyánek, J	1
Johnson, CF	1
Atkins, RJ; Holston, JL; Hosty, TS; Levy, HL; Patton, TH; Tomlin, GA	1
Howell, RR; Parmley, TH; Stevenson, RE; Thomas, GH	1
van der Horst, JL; Wadman, SK	1
Hill, A; Zaleski, WA	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
Huntley, CC; Stevenson, RE	1
Houghton, SA; Karolkewicz, V; Levy, HL; MacCready, RA	1
Cabalska, B; Duczyńska, N	1
Konno, T; Mochizuki, K; Nakagawa, H; Tada, K; Yoshida, T	1
Kahn, LI	1
McKean, CM; Peterson, NA	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
Brunecký, Z; Kaláb, Z; Mrskos, A; Podhradská, O; Veselá, V	1
Lowman, JT; Ulstrom, RA; Walker, WA	1
Colombo, JP; Humbel, R; Rossi, E; Vassella, F	1
Giovannini, M	1
Delahaye, DJ; Masotti, RE; Partington, MW; Read, JH; Roberts, B	1
Cohn, GH; Efron, ML; Moser, HW; Ouellette, EM	1
Ketting, D; Maas, JW; van Sprang, FJ; Wadman, SK	1
Berman, JL; Cunningham, GC; Day, RW; Ford, R; Hsia, DY	1
Charpentier, C; Leluc, R; Lemonnier, A	1
Anderson, JA; Fisch, RO; Walker, WA	1
Berry, HK; Sutherland, BS; Umbarger, B	1
Halász, P	1

Reviews

9 review(s) available for tyrosine and Intellectual Disability

Article	Year
[The role of nutrition in the synthesis of neurotransmitters and in cerebral functions: clinical implications]. Schweizerische medizinische Wochenschrift, 1981, Sep-26, Volume: 111, Issue:39 Topics: Alzheimer Disease; Amino Acids; Choline; Choline O-Acetyltransferase; Diabetes Mellitus; Dopa Decarboxylase; Humans; Intellectual Disability; Memory; Myasthenia Gravis; Neurotransmitter Agents; Nutritional Physiological Phenomena; Serotonin; Tryptophan; Tyrosine	1981
Tyrosinemia II: lessons in molecular pathophysiology. Pediatric dermatology, 1983, Volume: 1, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Animals; Ascorbic Acid; Child; Child, Preschool; Eye; Female; Genetic Carrier Screening; History, 20th Century; Humans; Infant; Infant, Newborn; Intellectual Disability; Isomerism; Isotretinoin; Male; Pyridoxine; Rats; Skin; Tretinoin; Tyrosine; Tyrosine Transaminase	1983
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. Ophthalmic genetics, 1995, Volume: 16, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Cornea; Corneal Opacity; Diagnosis, Differential; Female; Humans; Intellectual Disability; Keratitis; Keratitis, Herpetic; Keratoderma, Palmoplantar; Liver; Syndrome; Tyrosine; Tyrosine Transaminase; Visual Acuity	1995
[Other abnormalities of tyrosine metabolism]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acid Metabolism, Inborn Errors; Ascorbic Acid Deficiency; Humans; Infant, Newborn; Intellectual Disability; Liver Diseases; Tyrosine	1998
The justification theory: the essential nature of the non-essential amino acids. Nutrition reviews, 1979, Volume: 37, Issue:7 Topics: Amino Acids; Diet; Humans; Intellectual Disability; Intelligence; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; United States	1979
Review of current practices in management of inherited disorders of amino acid metabolism in Western Europe. Human nutrition. Applied nutrition, 1986, Volume: 40 Suppl 1 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
[Problems around phenylketonuria]. Ceskoslovenska pediatrie, 1969, Volume: 24, Issue:8 Topics: Diet Therapy; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Phenylalanine; Phenylketonurias; Tyrosine	1969
Phenylketonuria and its variants. Progress in medical genetics, 1970, Volume: 7 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
Biochemical factors in mental retardation. Proceedings of the annual meeting of the American Psychopathological Association, 1967, Volume: 56 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

Other Studies

97 other study(ies) available for tyrosine and Intellectual Disability

Article	Year
The Conserved Transcriptional Activation Activity Identified in Dual-Specificity Tyrosine-(Y)-Phosphorylation-Regulated Kinase 1. Biomolecules, 2023, 02-02, Volume: 13, Issue:2 Topics: Animals; Humans; Intellectual Disability; Phosphorylation; Protein Serine-Threonine Kinases; Protein-Tyrosine Kinases; Transcriptional Activation; Tyrosine	2023
An Abnormal Nitric Oxide Metabolism Contributes to Brain Oxidative Stress in the Mouse Model for the Fragile X Syndrome, a Possible Role in Intellectual Disability. Oxidative medicine and cellular longevity, 2016, Volume: 2016 Topics: Animals; Blotting, Western; Brain; Cytosol; Disease Models, Animal; Fragile X Mental Retardation Protein; Fragile X Syndrome; Intellectual Disability; Isoenzymes; Lipopolysaccharides; Mice, Knockout; Models, Biological; Nitrates; Nitric Oxide; Nitric Oxide Synthase Type I; Nitric Oxide Synthase Type II; Nitric Oxide Synthase Type III; Nitrites; Oxidative Stress; Real-Time Polymerase Chain Reaction; RNA, Messenger; Tissue Culture Techniques; Transcription Factor RelA; Tyrosine	2016
Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry. Journal of chromatography. A, 2016, Feb-19, Volume: 1434 Topics: Adult; Aged; Aggression; Animals; Chromatography, Liquid; Disruptive, Impulse Control, and Conduct Disorders; Female; Genetic Diseases, X-Linked; Healthy Volunteers; Humans; Intellectual Disability; Kynurenic Acid; Kynurenine; Male; Mice; Middle Aged; Monoamine Oxidase; Prefrontal Cortex; Serotonin; Tandem Mass Spectrometry; Tryptophan; Tyrosine; Young Adult	2016
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American journal of human genetics, 2017, 02-02, Volume: 100, Issue:2 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
A possible mechanism for disturbance in tyrosine metabolism in phenylpyruvic oligophrenia. Pediatrics, 1955, Volume: 15, Issue:1 Topics: Humans; Intellectual Disability; Phenylketonurias; Tyrosine	1955
[Some experiments on phenylalanine- and tyrosine metabolism in a patient with phenylpyruvic oligophrenia]. Maandschrift voor kindergeneeskunde, 1956, Volume: 24, Issue:1 Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1956
Competitive inhibition of mammalian tyrosinase by phenylalanine and its relationship to hair pigmentation in phenylketonuria. Nature, 1957, Jan-26, Volume: 179, Issue:4552 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]. Zeitschrift fur Kinderheilkunde, 1956, Volume: 78, Issue:2 Topics: Biochemical Phenomena; Humans; Intellectual Disability; Oxidoreductases; Phenylalanine; Phenylketonurias; Tyrosine	1956
Studies on conversion of phenylalanine to tyrosine in phenylpyruvic oligophrenia. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1957, Volume: 94, Issue:4 Topics: Biochemical Phenomena; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1957
[Phenylpyruvic idiocy and tyrosinosis]. Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften, 1962, Volume: 17 Topics: Amino Acid Metabolism, Inborn Errors; Intellectual Disability; Phenylketonurias; Tyrosine	1962
[Studies on the enzymatic and genetic system in phenylalanine metabolism disorders]. Pediatria polska, 1962, Volume: 37 Topics: Biochemical Phenomena; Enzymes; Geniculate Bodies; Humans; Intellectual Disability; Metabolic Diseases; Phenylalanine; Phenylketonurias; Tyrosine	1962
[FURTHER RESEARCH ON THYROID FUNCTION IN SUBJECTS WITH PHENYLPYRUVIC OLIGOPHRENIA. (EXAMINATION OF THYROID ACTIVITY AFTER STIMULATION WITH THYROTROPIN AND AFTER THIOURACIL BLOCK)]. Giornale di psichiatria e di neuropatologia, 1964, Volume: 92 Topics: Blood; Hypothyroidism; Intellectual Disability; Pharmacology; Phenylketonurias; Thiouracil; Thyroid Function Tests; Thyrotropin; Thyrotropin-Releasing Hormone; Tyrosine	1964
INBORN ERRORS OF METABOLISM. Journal of the American Dietetic Association, 1965, Volume: 46 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism; Carbohydrate Metabolism, Inborn Errors; Classification; Clinical Laboratory Techniques; Galactosemias; Genetics, Medical; Humans; Intellectual Disability; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Mass Screening; Phenylketonurias; Tyrosine	1965
[CONTRIBUTION TO THE STUDY OF MENTAL DEFICIENCY ETIOLOGY IN CASES OF INBORN ERRORS OF PHENYLALANINE METABOLISM]. Pediatria polska, 1965, Volume: 40 Topics: Biochemical Phenomena; Blood; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1965
Studies on phenylketonuria. III. The metabolism of o-tyrosine. The Journal of biological chemistry, 1955, Volume: 213, Issue:2 Topics: Acetates; Intellectual Disability; Phenylketonurias; Tyrosine	1955
The history of hypertyrosinemia caused by high protein diets. The Journal of pediatrics, 2006, Volume: 148, Issue:2 Topics: Dietary Proteins; Humans; Infant Food; Infant, Newborn; Intellectual Disability; Phenylalanine; Tyrosine; Tyrosinemias	2006
Hyperphenylalanemia without phenylketonuria. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 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
Metabolic traits in mentally retarded children as compared with normal populations: Phenylalanine and tyrosine in serum and urine. Journal of mental deficiency research, 1967, Volume: 11, Issue:3 Topics: Adolescent; Child; Child, Preschool; Chromatography; Female; Humans; Intellectual Disability; Male; Phenylalanine; Tyrosine	1967
Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels. The Journal of investigative dermatology, 1982, Volume: 79, Issue:2 Topics: Adult; Child; Corneal Dystrophies, Hereditary; Female; Humans; Intellectual Disability; Keratoderma, Palmoplantar; Male; Middle Aged; Pedigree; Skin; Skin Abnormalities; Syndrome; Tyrosine; Tyrosine Transaminase	1982
Dietary management of oculocutaneous tyrosinemia in an 11-year-old child. American journal of diseases of children (1960), 1983, Volume: 137, Issue:10 Topics: Adolescent; Adult; Ambulatory Care; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Phenylalanine; Seasons; Syndrome; Tyrosine	1983
Screening for aminoacid disorders in mental retardation. Indian pediatrics, 1984, Volume: 21, Issue:5 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Kynurenine; Male; Renal Aminoacidurias; Tyrosine	1984
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. The New England journal of medicine, 1983, Nov-24, Volume: 309, Issue:21 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
[Maternal phenylketonuria]. Padiatrie und Padologie, 1984, Volume: 19, Issue:1 Topics: Child; Chromatography, Thin Layer; Female; Heterozygote; Humans; Infant, Newborn; Intellectual Disability; Male; Maternal-Fetal Exchange; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine	1984
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis". Proceedings of the National Academy of Sciences of the United States of America, 1980, Volume: 77, Issue:10 Topics: Female; Fetal Blood; Humans; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine	1980
Nutrition in pregnancy of women with hyperphenylalaninemia. Journal of the American Dietetic Association, 1982, Volume: 80, Issue:5 Topics: Abortion, Spontaneous; Congenital Abnormalities; Female; Fetal Death; Fetal Growth Retardation; Humans; Intellectual Disability; Maternal-Fetal Exchange; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine	1982
Comparison of treated and untreated pregnancies in a mother with phenylketonuria. The Journal of pediatrics, 1982, Volume: 100, Issue:6 Topics: Abortion, Spontaneous; Adult; Child; Child, Preschool; Female; Humans; Intellectual Disability; Microcephaly; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine	1982
The justification theory: the effect of tyrosine deficiency on tubulin synthesis in the brain. Progress in clinical and biological research, 1982, Volume: 79 Topics: Brain; Dietary Proteins; Female; Heterozygote; Humans; Intellectual Disability; Phenylketonurias; Pregnancy; Tubulin; Tyrosine	1982
Unsuccessful treatment of phenylketonuria with tyrosine. The Journal of pediatrics, 1981, Volume: 99, Issue:1 Topics: Adult; Child Development; Female; Food, Fortified; Humans; Infant, Newborn; Intellectual Disability; Intelligence Tests; Male; Neurologic Manifestations; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine	1981
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. The New England journal of medicine, 1980, Nov-20, Volume: 303, Issue:21 Topics: Abortion, Spontaneous; Birth Weight; Female; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Intelligence; Microcephaly; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Tyrosine	1980
Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X). Human mutation, 1995, Volume: 5, Issue:4 Topics: Acidosis, Renal Tubular; Adult; Brain Diseases; Calcinosis; Carbonic Anhydrases; Clone Cells; DNA Mutational Analysis; Exons; Female; Humans; Intellectual Disability; Japan; Mutation; Polymerase Chain Reaction; Syndrome; Tyrosine	1995
Painful plantar callouses and mental retardation. Tyrosinemia type II. Archives of dermatology, 1994, Volume: 130, Issue:4 Topics: Bony Callus; Corneal Ulcer; Humans; Intellectual Disability; Keratoderma, Palmoplantar; Male; Middle Aged; Pain; Syndrome; Tyrosine; Tyrosine Transaminase	1994
[Oculocutaneous type II tyrosinosis]. Annales de dermatologie et de venereologie, 1993, Volume: 120, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Syndrome; Tyrosine	1993
Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach. American journal of medical genetics, 1995, Oct-09, Volume: 60, Issue:5 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Humans; Intellectual Disability; Keratoderma, Palmoplantar; Kuwait; Male; Pedigree; Point Mutation; Syndrome; Tyrosine; Tyrosine Transaminase	1995
Tyrosinemia type III: diagnosis and ten-year follow-up. Acta paediatrica (Oslo, Norway : 1992), 1997, Volume: 86, Issue:9 Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopsy, Needle; Child; Child, Preschool; Drug Combinations; Follow-Up Studies; Humans; Intellectual Disability; Liver; Male; Minerals; Neurologic Examination; Tyrosine; Vitamins	1997
Historical perspective: tyrosine and maternal phenylketonuria, welcome news. The American journal of clinical nutrition, 1998, Volume: 67, Issue:3 Topics: Deficiency Diseases; Female; Heterozygote; Homozygote; Humans; Intellectual Disability; Intelligence; Phenylketonurias; Pregnancy; Tyrosine	1998
Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response. Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6 Topics: Adult; Child; Chromatography, High Pressure Liquid; Female; Humans; Intellectual Disability; Male; Mass Spectrometry; Phenylalanine; Retrospective Studies; Tyrosine; Tyrosinemias	1999
Biogenic amine synthesis defect in dihydropteridine reductase deficiency. Science (New York, N.Y.), 1977, Nov-04, Volume: 198, Issue:4316 Topics: 5-Hydroxytryptophan; Biogenic Amines; Carbidopa; Dopamine; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Intellectual Disability; Levodopa; Male; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylketonurias; Probenecid; Seizures; Serotonin; Tyrosine	1977
Molecular biology and molecular pathology of a newly described molecular disease--tyrosinemia II (the Richner-Hanhart syndrome). Experimental cell biology, 1978, Volume: 46, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child; Crystallization; Disease Models, Animal; Eye Diseases; Female; Hemolysis; Heterozygote; Humans; In Vitro Techniques; Infant; Infant, Newborn; Intellectual Disability; Liver; Lysosomes; Male; Rats; Skin Diseases; Syndrome; Tyrosine; Tyrosine Transaminase	1978
[A case of Richner-Hanhart syndrome (tyrosinosis with ocular, cutaneous and mental manifestations]. Journal francais d'ophtalmologie, 1979, Volume: 2, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Child, Preschool; Corneal Opacity; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Keratoconjunctivitis; Keratoderma, Palmoplantar; Rats; Syndrome; Tyrosine; Tyrosine Transaminase; Vision Disorders	1979
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet (London, England), 1975, May-17, Volume: 1, Issue:7916 Topics: Biopterins; Child; Child, Preschool; Deglutition Disorders; Dihydropteridine Reductase; Female; Humans; Infant; Intellectual Disability; Male; Neuromuscular Diseases; Phenylalanine; Phenylketonurias; Seizures; Tyrosine	1975
Tyrosine-induced eye and skin lesions. A treatable genetic disease. JAMA, 1976, Jul-26, Volume: 236, Issue:4 Topics: Female; Growth Disorders; Humans; Infant; Intellectual Disability; Keratoderma, Palmoplantar; Syndrome; Tyrosine	1976
[Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)]. Klinische Monatsblatter fur Augenheilkunde, 1978, Volume: 173, Issue:4 Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Animals; Corneal Dystrophies, Hereditary; Humans; Infant; Intellectual Disability; Keratoderma, Palmoplantar; Male; Rats; Syndrome; Tyrosine	1978
[Tyrosinemia and Richner-Hanhart syndrome (an autosomal recessive hereditary metabolic disease of childhood with bilateral dendritic pseudokeratitis, keratosis palmaris et plantaris and mental deficiency)]. Bericht uber die Zusammenkunft. Deutsche Ophthalmologische Gesellschaft, 1978, Issue:75 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromosome Aberrations; Chromosome Disorders; Genes, Recessive; Humans; Intellectual Disability; Keratitis, Dendritic; Keratoderma, Palmoplantar; Syndrome; Tyrosine	1978
Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II). Helvetica paediatrica acta, 1979, Volume: 34, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child, Preschool; Humans; Hydroxy Acids; Infant; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Male; Syndrome; Tyrosine	1979
The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. Archives of ophthalmology (Chicago, Ill. : 1960), 1976, Volume: 94, Issue:7 Topics: Adolescent; Conjunctiva; Cornea; Corneal Opacity; Endothelium; Epithelium; Humans; Inclusion Bodies; Intellectual Disability; Keratoderma, Palmoplantar; Male; Parakeratosis; Phenylalanine; Syndrome; Tyrosine	1976
[Richner-Hanhart's syndrome or oculo-cutaneous tyrosinosis (about one case) (author's transl)]. Annales de dermatologie et de venereologie, 1979, Volume: 106, Issue:1 Topics: Child, Preschool; Female; Humans; Infant; Intellectual Disability; Keratitis, Dendritic; Keratosis; Syndrome; Tongue Diseases; Transaminases; Tyrosine	1979
Relative inability of mother and child to convert phenylalanine of tyrosine--a possible cause of nonspecific mental retardation. Biochemical medicine, 1979, Volume: 21, Issue:3 Topics: Adolescent; Adult; Child; Child, Preschool; Female; Heterozygote; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine	1979
[The problem in the differential diagnosis of various forms of hyperphenylalaninemia and in its diet therapy]. Minerva pediatrica, 1977, Apr-07, Volume: 29, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1977
Screening for inborn errors of metabolism: a multiple test program. Monographs in human genetics, 1978, Volume: 9 Topics: Amino Acid Metabolism, Inborn Errors; Ferric Compounds; Humans; Intellectual Disability; Mathematics; Metabolism, Inborn Errors; Nitroso Compounds; Phenylketonurias; Tyrosine	1978
[Characteristics of tyrosine balance and oxidation in oligophrenia of different origin]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1977, Volume: 77, Issue:3 Topics: Adolescent; Ascorbic Acid; Child; Female; Homogentisic Acid; Humans; Intellectual Disability; Male; Phenylpyruvic Acids; Syndrome; Tyrosine	1977
Intellectual deficits after transient tyrosinemia in the term neonate. Pediatrics, 1976, Volume: 57, Issue:5 Topics: Child, Preschool; Family Characteristics; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Psychological Tests; Time Factors; Tyrosine	1976
Classic phenylketonuria: diagnosis through heterozygote detection. The Journal of pediatrics, 1975, Volume: 86, Issue:4 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
[The relationship between hyperphenylalaninemia and mental retardation]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1975, Volume: 75, Issue:10 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. American journal of medical genetics, 1992, Dec-01, Volume: 44, Issue:6 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
Richner-Hanhart syndrome spares a plantar autograft. Archives of dermatology, 1985, Volume: 121, Issue:4 Topics: Adult; Eye Diseases; Female; Graft Survival; Heel; Humans; Intellectual Disability; Keratoderma, Palmoplantar; Skin; Skin Transplantation; Syndrome; Tyrosine	1985
Corneal erosions in tyrosinosis. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 1973, Volume: 8, Issue:4 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Chronic Disease; Consanguinity; Corneal Ulcer; Female; Follow-Up Studies; Humans; Intellectual Disability; Nystagmus, Pathologic; Photosensitivity Disorders; Tyrosine; Tyrosine Transaminase	1973
Children of mothers with phenylketonuria. Lancet (London, England), 1970, Jan-31, Volume: 1, Issue:7640 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
Tyrosinemia with plantar and palmar keratosis and keratitis. The Journal of pediatrics, 1973, Volume: 83, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Consanguinity; Diet Therapy; Female; Foot Dermatoses; Growth Disorders; Hand Dermatoses; Humans; Intellectual Disability; Keratitis; Keratoderma, Palmoplantar; Keratosis; Male; Microscopy, Electron; Phenylacetates; Phenylpyruvic Acids; Renal Aminoacidurias; Tyrosine	1973
Cystathioninuria. American journal of diseases of children (1960), 1967, Volume: 113, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschool; Cysteine; Diet Therapy; Female; Galactosemias; Glycogen; Humans; Infant; Intellectual Disability; Liver Neoplasms; Male; Maple Syrup Urine Disease; Methionine; Middle Aged; Neuroblastoma; Phenylketonurias; Portal Vein; Pyridoxine; Serine; Sulfisoxazole; Tyrosine	1967
[Amino acid imbalance as a pathogenetic factor in mental retardation (author's transl)]. Klinische Wochenschrift, 1974, May-15, Volume: 52, Issue:6 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
[Tyrosine oxidation in exogenic oligophrenia]. Pediatriia, 1974, Issue:11 Topics: Adolescent; Child; Female; Humans; Intellectual Disability; Male; Tyrosine	1974
Skin lesions in tyrosinosis: response to dietary treatment. The British journal of dermatology, 1973, Volume: 88, Issue:4 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopsy; Cytoplasm; Diet Therapy; Edema; Eosinophils; Erythema; Female; Fingers; Foot; Humans; Intellectual Disability; Keratosis; Tyrosine	1973
Monitoring phenylalanine-tyrosine metabolism by high-resolution liquid chromatography of urine. Clinical chemistry, 1973, Volume: 19, Issue:8 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
Saturation of blood brain barrier transport of amino acids in phenylketonuria. Archives of neurology, 1973, Volume: 28, Issue:1 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
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta). Pediatrics, 1968, Volume: 42, Issue:1 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
[Biochemistry of phenylketonuria]. Casopis lekaru ceskych, 1972, Volume: 111, Issue:8 Topics: Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1972
[Hyperphenylalaninemia and other hyperaminoacidurias with mental retardation, detected by multiple screening]. Casopis lekaru ceskych, 1972, Volume: 111, Issue:8 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. Clinical pediatrics, 1972, Volume: 11, Issue:3 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
Genetic failure of fetal amino acid "justification": a common basis for many forms of metabolic, nutritional, and "nonspecific" mental retardation. The Journal of pediatrics, 1972, Volume: 81, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Developing Countries; Dietary Proteins; Female; Fetus; Heterozygote; Homozygote; Humans; Infant, Newborn; Intellectual Disability; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Nutrition Disorders; Phenotype; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Protein Biosynthesis; Tyrosine	1972
Tyrosinosis: a patient without liver or renal disease. Pediatrics, 1971, Volume: 48, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Chromatography, Ion Exchange; Chromatography, Paper; Humans; Intellectual Disability; Kidney Diseases; Lactates; Liver; Liver Diseases; Male; Mixed Function Oxygenases; Phenylacetates; Phenylpyruvic Acids; Tyrosine	1971
Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria. American journal of obstetrics and gynecology, 1971, Volume: 111, Issue:1 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
A variant form of branched-chain keto aciduria. Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:5 Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine	1971
Tyrosinosis: biochemical studies of an unusual case. Clinical biochemistry, 1971, Volume: 4, Issue:4 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, Gas; Chromatography, Paper; Diet; Female; Humans; Intellectual Disability; Phenylalanine; Tyrosine	1971
Serotonin deficiency in infancy as a cause of a mental defect in experimental phenylketonuria. International journal of neuropsychiatry, 1965, Volume: 1, Issue:6 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]. Voprosy okhrany materinstva i detstva, 1969, Volume: 14, Issue:7 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. Pediatrics, 1969, Volume: 44, Issue:5 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]. Acta psychiatrica Scandinavica, 1969, Volume: 45, Issue:4 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. Obstetrics and gynecology, 1969, Volume: 34, Issue:5 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
Screening the "normal" population in Massachusetts for phenylketonuria. The New England journal of medicine, 1970, Jun-25, Volume: 282, Issue:26 Topics: Adolescent; Adult; Aged; Amino Acids; Diet Therapy; Female; Humans; Intellectual Disability; Male; Mass Screening; Massachusetts; Phenylalanine; Phenylketonurias; Tyrosine	1970
Phenyketonuria. Evaluation of early treatment. Polish medical journal, 1970, Volume: 9, Issue:1 Topics: Age Factors; Body Height; Body Weight; Diet Therapy; Electroencephalography; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine	1970
Two siblings of hyperphenylalaninemia: suggestion to a genetic variant of phenylketonuria. The Tohoku journal of experimental medicine, 1970, Volume: 100, Issue:3 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. Clinical pediatrics, 1970, Volume: 9, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Diet Therapy; Female; Humans; Infant; Intellectual Disability; Phenylalanine; Phenylketonurias; Transaminases; Tryptophan; Tyrosine	1970
Glutamine in the phenylketonuric central nervous system. The New England journal of medicine, 1970, Dec-17, Volume: 283, Issue:25 Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female; Glutamine; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Middle Aged; Phenylketonurias; Serine; Threonine; Tyrosine	1970
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children. Journal of mental deficiency research, 1970, Volume: 14, Issue:1 Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine	1970
[Evaluation of the activity of a phenylketonuria detection center. Analysis of the results of 500,000 tests]. La Presse medicale, 1971, Feb-20, Volume: 79, Issue:9 Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, Paper; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Phenylalanine; Phenylketonurias; Preventive Health Services; Tyrosine	1971
[Are heterozygotes in phenylketonuria always normal?]. Ceskoslovenska pediatrie, 1971, Volume: 26, Issue:4 Topics: Child; Child, Preschool; Electroencephalography; Epilepsy; Heterozygote; Humans; Intellectual Disability; Intelligence Tests; Phenylketonurias; Physical Exertion; Tyrosine	1971
Albumin synthesis rates in patients with hypoproteinemia. The Journal of pediatrics, 1971, Volume: 78, Issue:5 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anaphylaxis; Anorexia Nervosa; Bile Ducts; Child; Child, Preschool; Chromatography, Gel; Colitis, Ulcerative; Cystic Fibrosis; Female; Glomerulonephritis; Humans; Hypoproteinemia; Infant; Injections, Intravenous; Intellectual Disability; Kinetics; Liver; Liver Cirrhosis; Liver Cirrhosis, Biliary; Liver Diseases; Male; Methionine; Nephrotic Syndrome; Psychomotor Disorders; Purpura; Radioisotopes; Selenium; Serum Albumin; Spectrophotometry; Tyrosine	1971
Phenylketonuria, a family study. Borderline intelligence in two siblings with mentally retarded children. Helvetica paediatrica acta, 1967, Volume: 22, Issue:3 Topics: Adolescent; Adult; Female; Genotype; Humans; Intellectual Disability; Male; Pedigree; Phenylalanine; Phenylketonurias; Tyrosine	1967
[Current views on therapy of some dysmetabolic oligophrenias]. Minerva pediatrica, 1967, Dec-22, Volume: 19, Issue:51 Topics: Child, Preschool; Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intellectual Disability; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Phenylketonurias; Tyrosine	1967
Neonatal tyrosinaemia: a follow-up study. Archives of disease in childhood, 1968, Volume: 43, Issue:228 Topics: Amino Acid Metabolism, Inborn Errors; Birth Weight; Body Height; Body Weight; Child, Preschool; Female; Follow-Up Studies; Gestational Age; Growth; Humans; Infant; Infant, Newborn; Infant, Premature, Diseases; Intellectual Disability; Intelligence Tests; Male; Tyrosine	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. Neurology, 1968, Volume: 18, Issue:3 Topics: Adolescent; Drug Tolerance; Female; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1968
An exceptional case of tyrosinosis. Journal of mental deficiency research, 1968, Volume: 12, Issue:4 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ascorbic Acid; Cataract; Female; Humans; Intellectual Disability; Mandelic Acids; Methionine; Mixed Function Oxygenases; Phenylacetates; Phenylpyruvic Acids; Tyrosine	1968
Causes for high phenylalanine with normal tyrosine in newborn screening programs. American journal of diseases of children (1960), 1969, Volume: 117, Issue:1 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
[Biochemical and analytical bases of the exploration of phenylalanine metabolism]. Annales de pediatrie, 1964, Mar-02, Volume: 11, Issue:3 Topics: Humans; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tryptophan; Tyrosine	1964
Prenatal and postnatal developmental consequences of maternal phenylketonuria. Pediatrics, 1966, Volume: 37, Issue:6 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
Detection of phenylketonuria in newborn infants. JAMA, 1966, Dec-05, Volume: 198, Issue:10 Topics: Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Intellectual Disability; Phenylalanine; Phenylketonurias; Tyrosine	1966
Ataxia-telangiectasia (Louis-Bar syndrome). Confinia neurologica, 1966, Volume: 28, Issue:1 Topics: Ataxia; Bronchiectasis; Child; Female; Humans; Intellectual Disability; Male; Myoclonus; Pulmonary Fibrosis; Tyrosine	1966