phenylalanine and Inborn Errors of Metabolism

phenylalanine has been researched along with Inborn Errors of Metabolism in 99 studies

Research

Studies (99)

Timeframe	Studies, this research(%)	All Research%
pre-1990	66 (66.67)	18.7374
1990's	16 (16.16)	18.2507
2000's	7 (7.07)	29.6817
2010's	8 (8.08)	24.3611
2020's	2 (2.02)	2.80

Authors

Authors	Studies
Angeloni, A; Bizzarri, M; Ialongo, C; Piombarolo, A	1
Amorim, T; Boa-Sorte, N; Leite, MEQ; Nogueira, ZD; Toralles, MBP	1
Lichter-Konecki, U; Sklirou, E	1
Murphy, E	1
Gazit, E	1
Abdenur, J; Baumgart, S; Bernstein, JA; Day-Salvatore, DL; Gavrilov, DK; Lichter-Konecki, U; Lim, JS; Lorey, F; Matern, D; Oglesbee, D; Raymond, K; Rinaldo, P; Schimmenti, L; Tortorelli, S; Turgeon, CT	1
Dhondt, JL	1
Gersting, SW; Muntau, AC	1
Herle, M; Ipsiroglu, OS; Moeslinger, D; Stockler, S; Wimmer, B	1
Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T	1
Coskun, T; Ersoy, F; Karagoz, T; Ozalp, I; Ozkaya, E	1
Chung, JH; Kim, JM; Laipis, P; Lee, YJ; Oh, SP; Park, S; Park, YS; Peris, J; Yang, S	1
Lukacs, Z; Santer, R	1
Chaing, SH; Frazier, DM; Koeberl, DD; McCandless, SE; Millington, DS; Muenzer, J; Weavil, SD	1
Charoensiriwatanamsc, W; Liamsuwanmd, S; Pangkanon, S	1
Berlow, S; Hoganson, G; Kaufman, S; Matalon, R; Milstien, S; Naylor, E; Schuett, V; Seifert, W	1
Aoki, K; Arashima, S; Kawamura, M; Kitagawa, T; Oura, T; Sakai, K; Suwa, S; Tada, K; Takesada, M; Tateda, H	1
Dhondt, JL; Farriaux, JP; Largilliere, C; Leeming, RJ; Leroux, B	1
Atarés, M; Blau, N; Cardesa-Garcia, J; Joller, P; Niederwieser, A; Wang, M	1
Bachmann, C; Colombo, JP	1
Bowling, F; Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Wilcken, B	1
Hitzeroth, HW; Mienie, LJ; Op't Hof, J; Reinecke, CJ	1
Gregg, JB; Stanage, WF	1
Mamunes, P	1
Laguna Serrano, C	1
Knoll, E; Scheibenreiter, S; Schön, R; Thalhammer, O; Wehle, E	1
Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Tucker, RG; Wilcken, B	1
Alm, J; Larsson, A	1
Blau, N; Cabral, A; de Almeida, IT; Eusébio, F; Leandro, PP; Matasovic, A; Portela, R; Tasso, T	1
Hommes, FA	1
Bresson, JL; Mariotti, A; Narcy, C; Poggi, F; Saudubray, JM; Sbaï, D; Thompson, GN	1
Blau, N; Dhondt, JL	1
Imamura, T; Isshiki, G; Nakajima, T; Oura, T; Sawada, Y; Shintaku, H	1
Blakely, E; Miller, ME; Plumeau, P	1
Schäfer, R	1
Belal, S; Dhondt, JL; Hentati, F; Kaabachi, N; Larnaout, A; Mebazza, A; Miladi, N	1
Sansom, C	1
Bell, L; Chan, L; Hanley, WB	1
Hyland, K	1
Cederbaum, S; Vilain, E	1
Peñalva, MA	1
Christiansen, JS; Jørgensen, JO; Møller, N; Nielsen, S; Pedersen, SB	1
Mori, A	1
Chalmers, RA; Lawson, AM; Watts, RW	1
Blass, JP; Milne, JF	1
Brady, RO	2
Barashneva, SM; Ladodo, KS	1
Brown, DA; Connelly, J; Francis, I; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Tucker, RG; Wilcken, B	1
Holtzman, NA	1
Athar, HS; Hasnain, SN	1
Omenn, GS	1
Morrow, G	1
Lanza, I	1
Kaufman, S	1
Economou-Petersen, E; Guldberg, P; Güttler, F; Henriksen, KF	1
Clark, BJ; Cockburn, F	1
Bueno Sánchez, A; Martínez Valverde, A	1
Halliday, D; Leonard, JV; Thompson, GN; Walter, JH	1
Baker, R; Fishler, K; Koch, R; Lang, MJ	1
Blau, N; Curtius, HC; Dhondt, JL; Guibaud, P; Kuster, T	1
Andre, S; Dhondt, JL; Dorche, C; Forzy, G; Guibaud, P; Hayte, JM; Rolland, MO	1
Roth, KS	1
Bickel, H; Mathias, D	1
Levy, HL; MacCready, RA; Simmons, JR	1
Winokur, B	1
Raine, DN	1
Harper, PS	1
Folkers, K	1
Forsum, E; Hambroeus, L; Hardell, LI; Lorentsson, R	1
Vis, HL	1
Nitowsky, HM	1
Ambrose, JA	1
Brown, DA; Gaha, TJ; McLeay, AC; Smith, A; Wilcken, B	1
Thalhammer, O	2
Iivanainen, M; Palo, J; Savolainen, H	1
Balda, BR; Lukacs, I	1
Robins, E	1
Kownacka-Klimek, E	1
Linneweh, F	1
Hsia, DY	1
Menkes, JH	1
Brady, N; Laplante, M; Lebel, E; Tran, N	1
Scheiber, V; Thalhammer, O	1
Yu, JS	1
Van Sande, M	1
Danks, DM	1
Hoza, J; Hyánek, J; Mrastíková, H; Sádlová, I; Seemanová, E; Wünschová, N; Zelingerová, J	1
Woolf, LI	2
Berger, R; Boyer, M	1
Berger, R; Broyer, M	1
Rett, A	1
Charpentier, C; Leluc, R; Lemonnier, A	1
Attal, C; Boisse, J; Leluc, R; Mozziconacci, P	1
Noguchi, T; Tsukada, Y	1

Reviews

16 review(s) available for phenylalanine and Inborn Errors of Metabolism

Article	Year
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine. Pediatric clinics of North America, 2018, Volume: 65, Issue:2 Topics: Cognitive Dysfunction; Creatine; Diagnosis, Differential; Homocysteine; Humans; Metabolism, Inborn Errors; Methionine; Phenylalanine; Purines; Pyrimidines	2018
Medical Problems in Obstetrics: Inherited Metabolic Disease. Best practice & research. Clinical obstetrics & gynaecology, 2015, Volume: 29, Issue:5 Topics: Abortion, Spontaneous; Breast Feeding; Developmental Disabilities; Female; Galactosemias; Humans; Infertility, Female; Metabolism, Inborn Errors; Nausea; Phenylalanine; Phenylketonuria, Maternal; Postnatal Care; Preconception Care; Pregnancy; Pregnancy Complications; Teratogenesis; Vomiting	2015
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:6 Topics: Animals; Diet Therapy; Drug Discovery; Enzyme Replacement Therapy; Humans; Metabolism, Inborn Errors; Models, Biological; Models, Molecular; Orphan Drug Production; Phenylalanine; Phenylketonurias; Proteostasis Deficiencies	2010
Neonatal screening tests. Pediatric clinics of North America, 1980, Volume: 27, Issue:4 Topics: Adenosine Deaminase; Anemia, Sickle Cell; Biological Assay; Costs and Cost Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tyrosine; United States	1980
Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism. Seminars in perinatology, 1999, Volume: 23, Issue:2 Topics: Biogenic Monoamines; Biopterins; Catecholamines; Humans; Metabolism, Inborn Errors; Phenylalanine; Serotonin	1999
A fungal perspective on human inborn errors of metabolism: alkaptonuria and beyond. Fungal genetics and biology : FG & B, 2001, Volume: 34, Issue:1 Topics: Alkaptonuria; Animals; Aspergillus nidulans; Genes, Fungal; Humans; Metabolism, Inborn Errors; Models, Chemical; Mutation; Phenylalanine; Tyrosine	2001
[Inborn errors of metabolism and neurotransmitters]. Nihon rinsho. Japanese journal of clinical medicine, 1978, Volume: 36, Issue:1 Topics: Catecholamines; Glutamine; Humans; Metabolism, Inborn Errors; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin	1978
Inherited metabolic diseases and pathogenesis of mental retardation. Annales de biologie clinique, 1978, Volume: 36, Issue:2 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
[Diet therapy successes in treating hereditary metabolic diseases in children]. Vestnik Akademii meditsinskikh nauk SSSR, 1978, Issue:3 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
Inborn errors of metabolism: clues to understanding human behavioral disorders. Behavior genetics, 1976, Volume: 6, Issue:3 Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heterozygote; Homocystinuria; Humans; Lesch-Nyhan Syndrome; Maple Syrup Urine Disease; Mental Disorders; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Porphyrias; Sphingolipidoses; Turner Syndrome; Urea	1976
Biopterin-responsive hyperphenylalaninemia. Journal of nutritional science and vitaminology, 1992, Volume: Spec No Topics: Biopterins; Humans; Metabolism, Inborn Errors; Molecular Structure; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1992
[Genetics of metabolic diseases. Including cystic fibrosis]. Anales espanoles de pediatria, 1990, Volume: 33 Suppl 42 Topics: Child; Child, Preschool; Cystic Fibrosis; DNA Mutational Analysis; Female; Humans; Male; Metabolic Diseases; Metabolism, Inborn Errors; Mutation; Phenylalanine; Prenatal Diagnosis	1990
[Molecular biologic aspects in dermatology demonstrated by some hereditary enzyme defects]. Zeitschrift fur Haut- und Geschlechtskrankheiten, 1968, Dec-01, Volume: 43, Issue:23 Topics: Albinism; Alkaptonuria; Anemia, Sickle Cell; Chromosomes; Hartnup Disease; Humans; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Models, Chemical; Molecular Biology; Phenylalanine; Phenylketonurias; Porphyrias; Skin Diseases; Tyrosine	1968
The measurement of phenylalanine and tyrosine in blood. Methods of biochemical analysis, 1969, Volume: 17 Topics: Adult; Biological Assay; Child, Preschool; Fluorometry; Humans; Indicators and Reagents; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methods; Microchemistry; Middle Aged; Naphthalenes; Nitroso Compounds; Phenylalanine; Phenylketonurias; Tyrosine	1969
[Tyrosinosis]. Przeglad lekarski, 1969, Volume: 25, Issue:10 Topics: Deficiency Diseases; Humans; Infant; Infant, Newborn; Liver Cirrhosis; Metabolism, Inborn Errors; Phenylalanine; Pyruvate Oxidase; Tyrosine	1969
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

Trials

1 trial(s) available for phenylalanine and Inborn Errors of Metabolism

Article	Year
The effect of long-term pharmacological antilipolysis on substrate metabolism in growth hormone (GH)-substituted GH-deficient adults. The Journal of clinical endocrinology and metabolism, 2002, Volume: 87, Issue:7 Topics: Adult; Body Composition; Cross-Over Studies; Double-Blind Method; Drug Administration Schedule; Female; Growth Hormone; Hormones; Human Growth Hormone; Humans; Hypolipidemic Agents; Lipoprotein Lipase; Lipoproteins; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; Pyrazines; Tyrosine	2002

Article

Year

The effect of long-term pharmacological antilipolysis on substrate metabolism in growth hormone (GH)-substituted GH-deficient adults.

The Journal of clinical endocrinology and metabolism, 2002, Volume: 87, Issue:7

Topics: Adult; Body Composition; Cross-Over Studies; Double-Blind Method; Drug Administration Schedule; Female; Growth Hormone; Hormones; Human Growth Hormone; Humans; Hypolipidemic Agents; Lipoprotein Lipase; Lipoproteins; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; Pyrazines; Tyrosine

2002

Other Studies

82 other study(ies) available for phenylalanine and Inborn Errors of Metabolism

Article	Year
Systems Biology and Inborn Error of Metabolism: Analytical Strategy in Investigating Different Biochemical/Genetic Parameters. Methods in molecular biology (Clifton, N.J.), 2024, Volume: 2745 Topics: Humans; Metabolism, Inborn Errors; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2024
METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA. Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo, 2021, Volume: 39 Topics: Adolescent; Anthropometry; Body Composition; Case-Control Studies; Child; Child, Preschool; Cohort Studies; Demography; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Nutritional Status; Overweight; Phenylalanine; Phenylketonurias; Retrospective Studies; Socioeconomic Factors	2021
Metabolite amyloids: a new paradigm for inborn error of metabolism disorders. Journal of inherited metabolic disease, 2016, Volume: 39, Issue:4 Topics: Amyloid; Amyloidosis; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Peptides; Phenylalanine; Proteins	2016
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. The Journal of pediatrics, 2010, Volume: 157, Issue:2 Topics: Algorithms; Homocysteine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Neonatal Screening; Phenylalanine; Reference Values; Reproducibility of Results; Retrospective Studies; Tandem Mass Spectrometry	2010
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:Suppl 2 Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Pteridines	2010
Cultural aspects in the management of inborn errors of metabolism. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Austria; Child; Communication; Cultural Characteristics; Emigration and Immigration; Ethnicity; Family Characteristics; Female; Humans; Language; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Socioeconomic Factors; Turkey	2012
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular genetics and metabolism, 2013, Volume: 108, Issue:3 Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine	2013
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies. Indian pediatrics, 2003, Volume: 40, Issue:9 Topics: B-Lymphocytes; Biopterins; Child; Child, Preschool; Female; Humans; Immunoglobulin G; Immunoglobulin M; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; T-Lymphocytes	2003
A murine model for human sepiapterin-reductase deficiency. American journal of human genetics, 2006, Volume: 78, Issue:4 Topics: Alcohol Oxidoreductases; Animals; Base Sequence; Biopterins; Catecholamines; Disease Models, Animal; DNA Primers; Growth; Humans; Immunohistochemistry; Locomotion; Metabolism, Inborn Errors; Mice; Mice, Knockout; Phenotype; Phenylalanine; Serotonin	2006
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Molecular nutrition & food research, 2006, Volume: 50, Issue:4-5 Topics: Amino Acids; Biopterins; Circadian Rhythm; False Positive Reactions; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization	2006
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Blood Specimen Collection; False Negative Reactions; Fatty Acids; Female; Follow-Up Studies; Humans; Incidence; Infant, Newborn; Male; Metabolism, Inborn Errors; Neonatal Screening; North Carolina; Phenylalanine; Pilot Projects; Spectrometry, Mass, Electrospray Ionization	2006
6-pyruvoyltetrahydropterin synthase deficiency two-case report. Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2006, Volume: 89, Issue:6 Topics: Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phosphorus-Oxygen Lyases; Point Mutation; Pterins	2006
Biopterin synthesis defects: problems in diagnosis. Pediatrics, 1984, Volume: 74, Issue:6 Topics: Biopterins; Diet; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neopterin; Neurotransmitter Agents; Phenylalanine; Pteridines	1984
Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan. European journal of pediatrics, 1984, Volume: 142, Issue:3 Topics: Biopterins; Female; Follow-Up Studies; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intelligence; Japan; Male; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1984
Dihydrobiopterin biosynthesis deficiency. European journal of pediatrics, 1983, Volume: 141, Issue:2 Topics: Biopterins; Female; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Neopterin; Phenylalanine; Pteridines	1983
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. European journal of pediatrics, 1984, Volume: 141, Issue:4 Topics: Adolescent; Aminohydrolases; Biopterins; Child; Child, Preschool; Dopamine; Female; GTP Cyclohydrolase; Humans; Infant; Liver; Metabolism, Inborn Errors; Muscle Hypotonia; Neopterin; Phenylalanine; Pteridines; Serotonin	1984
Incidence of disorders tested by systematic screening: confidence limits and comparison of programmes. Journal of inherited metabolic disease, 1982, Volume: 5, Issue:1 Topics: Epidemiologic Methods; Humans; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Statistics as Topic; Switzerland	1982
Genetic screening of newborn in Australia. Results for 1981. The Medical journal of Australia, 1983, Apr-02, Volume: 1, Issue:7 Topics: Australia; Congenital Hypothyroidism; Genetic Testing; Humans; Hypothyroidism; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1983
Screening for inborn errors of metabolism among mentally retarded patients. Outcome of a surgery at the Witrand Care and Rehabilitation Centre. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1983, Jan-01, Volume: 63, Issue:1 Topics: Adolescent; Adult; Aged; Child; Female; Humans; Intellectual Disability; Malabsorption Syndromes; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; South Africa; Urine	1983
Hyperphenylalaninemia (PKU) and hypothyroid testing. South Dakota journal of medicine, 1982, Volume: 35, Issue:7 Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; South Dakota	1982
[Congenital errors of metabolism: phenylketonuria and hyperphenylalanemias]. Anales de la Real Academia Nacional de Medicina, 1982, Volume: 99, Issue:4 Topics: Diagnosis, Differential; Female; Genetic Carrier Screening; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Pregnancy	1982
[12 years Austrian newborn screening for inborn errors of metabolism. Results with special reference to phenylketonuria, hyperphenylalaninemia and histidinemia (author's transl)]. Klinische Padiatrie, 1980, Volume: 192, Issue:6 Topics: Austria; Female; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Psychometrics	1980
Genetic screening of newborn in Australia: results for 1979. The Medical journal of Australia, 1981, Jan-10, Volume: 1, Issue:1 Topics: Australia; Female; Humans; Hyperthyroidism; Infant, Newborn; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1981
Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979. Acta paediatrica Scandinavica, 1981, Volume: 70, Issue:5 Topics: Evaluation Studies as Topic; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sweden; Tyrosine	1981
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. Advances in experimental medicine and biology, 1993, Volume: 338 Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Portugal; Pterins	1993
The effect of hyperphenylalaninaemia on the muscarinic acetylcholine receptor in the HPH-5 mouse brain. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6 Topics: Animals; Brain; Brain Chemistry; Disease Models, Animal; Metabolism, Inborn Errors; Mice; Mice, Mutant Strains; Phenylalanine; Phenylalanine Hydroxylase; Protein Binding; Quinuclidinyl Benzilate; Receptors, Dopamine D1; Receptors, Muscarinic	1993
Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism. The American journal of clinical nutrition, 1994, Volume: 59, Issue:6 Topics: Adolescent; Calorimetry, Indirect; Child; Child, Preschool; Fasting; Fatty Acids; Humans; Metabolism, Inborn Errors; Models, Biological; Oxidation-Reduction; Phenylalanine; Propionates	1994
Tetrahydrobiopterin deficiency and an international database of patients. Advances in experimental medicine and biology, 1993, Volume: 338 Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Biomarkers; Biopterins; Carbidopa; Child; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Information Systems; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Registries	1993
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency. Advances in experimental medicine and biology, 1993, Volume: 338 Topics: Adrenal Glands; Animals; Biopterins; Corpus Striatum; Dopamine; Epinephrine; Female; Fetal Blood; Guinea Pigs; Hypoxanthines; Infusions, Intravenous; Liver; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine	1993
Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. Clinical pediatrics, 1993, Volume: 32, Issue:2 Topics: Animals; Humans; Infant Food; Infant, Newborn; Male; Metabolism, Inborn Errors; Milk; Mothers; Neonatal Screening; Phenylalanine; Referral and Consultation; Truth Disclosure	1993
[Detection of human proteins in vivo!]. Fortschritte der Medizin, 1997, Oct-30, Volume: 115, Issue:30 Topics: Blood Proteins; Carbon Radioisotopes; Deuterium; Humans; Leucine; Metabolism, Inborn Errors; Phenylalanine	1997
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients. Neuropediatrics, 1998, Volume: 29, Issue:6 Topics: Adult; Age of Onset; Child; Consanguinity; Disease Progression; Follow-Up Studies; Humans; Male; Metabolism, Inborn Errors; Movement Disorders; Neurodegenerative Diseases; Nuclear Family; Phenylalanine; Phenylketonurias; Pteridines	1998
Tandem mass spectrometry: the tool of choice for diagnosing inborn errors of metabolism. Molecular medicine today, 1999, Volume: 5, Issue:3 Topics: Amino Acids; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias	1999
Revision of the Ontario phenylalanine equivalency system and development of a low protein equivalency system. Journal of the Canadian Dietetic Association, 1982, Volume: 43, Issue:4 Topics: Diet Therapy; Dietary Proteins; Food; Humans; Metabolism, Inborn Errors; Nutritive Value; Ontario; Phenylalanine; Therapeutic Equivalency	1982
Newborn screening for inborn errors of metabolism is going to expand: are we ready? The Journal of pediatrics, 1999, Volume: 134, Issue:6 Topics: False Positive Reactions; Humans; Infant, Newborn; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Phenylalanine	1999
Abnormal organic acidurias in mentally retarded patients. Lancet (London, England), 1975, Feb-15, Volume: 1, Issue:7903 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
Newer concepts of psychiatric diagnosis and biochemical research on mental illness. Lancet (London, England), 1977, Apr-02, Volume: 1, Issue:8014 Topics: Brain Diseases; Humans; Mental Disorders; Metabolism, Inborn Errors; Phenethylamines; Phenylalanine	1977
Genetic screening of the newborn in Australia. Results for 1978. The Medical journal of Australia, 1979, Sep-08, Volume: 2, Issue:5 Topics: Australia; Blood Stains; Congenital Hypothyroidism; Cystinuria; Female; Fetal Blood; Genetic Testing; Histidine; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1979
Rare diseases, common problems: recognition and management. Pediatrics, 1978, Volume: 62, Issue:6 Topics: Female; Humans; Infant; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Problem Solving; Sleep Stages; Vomiting	1978
Enzyme abnormalities in man and the role of their identification in preventive medicine. JPMA. The Journal of the Pakistan Medical Association, 1976, Volume: 26, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Clinical Enzyme Tests; Cystathionine; Homogentisic Acid; Humans; Metabolism, Inborn Errors; Phenylalanine; Propionates	1976
Inherited metabolic diseases of the nervous system. Science (New York, N.Y.), 1976, Aug-27, Volume: 193, Issue:4255 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
Latrogenesis imperfecta--a new pediatric problem. Pediatrics, 1975, Volume: 55, Issue:4 Topics: Amniotic Fluid; Clinical Laboratory Techniques; Cushing Syndrome; Diagnostic Errors; Disease; False Positive Reactions; Female; Health; Humans; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Pregnancy	1975
[Multiple screening tests for hereditary metabolic diseases. Clinical problems and questions of interpretation]. Minerva pediatrica, 1975, Nov-24, Volume: 27, Issue:37 Topics: Genotype; Histidine; Humans; Metabolism, Inborn Errors; Methods; Phenylalanine; Tyrosine	1975
Molecular basis for nonphenylketonuria hyperphenylalaninemia. Genomics, 1992, Volume: 14, Issue:1 Topics: Base Sequence; Exons; Female; Haplotypes; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Molecular Sequence Data; Oligonucleotide Probes; Pedigree; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Tyrosine	1992
Management of inborn errors of metabolism during pregnancy. Acta paediatrica Scandinavica. Supplement, 1991, Volume: 373 Topics: Birth Weight; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Patient Compliance; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Scotland	1991
In vivo enzyme activity in inborn errors of metabolism. Metabolism: clinical and experimental, 1990, Volume: 39, Issue:8 Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine	1990
Nonphenylketonuric hyperphenylalaninemia. American journal of diseases of children (1960), 1989, Volume: 143, Issue:12 Topics: Adolescent; Adult; Child; Diet; Female; Humans; Intelligence; Male; Metabolism, Inborn Errors; Phenylalanine; Wechsler Scales	1989
Annual meeting of the Society for the Study of Inborn Errors of Metabolism. Liverpool, 3-6 September 1985. Journal of inherited metabolic disease, 1986, Volume: 9 Suppl 2 Topics: Humans; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1986
New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins. European journal of pediatrics, 1988, Volume: 148, Issue:2 Topics: Biopterins; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine	1988
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency. European journal of pediatrics, 1988, Volume: 147, Issue:2 Topics: Biogenic Amines; Biopterins; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neopterin; Phenylalanine	1988
[Neonatal screening for congenital errors of metabolism. Evian, April 1986]. Archives francaises de pediatrie, 1987, Volume: 44 Suppl 1 Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine	1987
Newborn metabolic screening: a search for "nature's experiments". Southern medical journal, 1986, Volume: 79, Issue:1 Topics: Biopterins; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Keto Acids; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Thiamine; Time Factors; United States	1986
Inter-laboratory quality control in neonatal screening for inborn errors of metabolism. European journal of pediatrics, 1985, Volume: 144, Issue:2 Topics: Diagnostic Tests, Routine; False Negative Reactions; Galactose; Germany, West; Humans; Infant, Newborn; Leucine; Metabolism, Inborn Errors; Methionine; National Health Programs; Phenylalanine; Quality Control	1985
Stability of amino acids and galactose in the newborn screening filter paper blood specimen. The Journal of pediatrics, 1985, Volume: 107, Issue:5 Topics: Amino Acids; Blood Specimen Collection; Fetal Blood; Filtration; Galactose; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Paper; Phenylalanine; Time Factors	1985
Subnormality and its relation to psychiatry. Lancet (London, England), 1974, Aug-03, Volume: 2, Issue:7875 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
Inherited metabolic disease. Lancet (London, England), 1974, Oct-26, Volume: 2, Issue:7887 Topics: Albumins; Amino Acid Metabolism, Inborn Errors; Chromatography; Clinical Laboratory Techniques; Costs and Cost Analysis; Cystic Fibrosis; Evaluation Studies as Topic; Galactosemias; Genetic Counseling; Humans; Hyperlipidemias; Infant; Infant, Newborn; Iron; Mass Screening; Meconium; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1974
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 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
The potential of coenzyme Q 10 (NSC-140865) in cancer treatment. Cancer chemotherapy reports. Part 2, 1974, Volume: 4, Issue:4 Topics: Animals; Antibody Formation; Antineoplastic Agents; Chick Embryo; Cricetinae; Haplorhini; Humans; Lipid Metabolism; Metabolism, Inborn Errors; Mice; Neoplasms; Peroxides; Phenylalanine; Rabbits; Rats; Sarcoma 180; Succinate Dehydrogenase; Turkeys; Tyrosine; Ubiquinone	1974
Use of a formula based on whey protein concentrate in the feeding of an infant with hyperphenylalaninemia. Nutrition and metabolism, 1974, Volume: 17, Issue:2 Topics: Dairy Products; Dietary Proteins; Female; Humans; Infant; Infant Food; Infant Nutritional Physiological Phenomena; Infant, Newborn; Metabolism, Inborn Errors; Nitrogen; Phenylalanine	1974
[Problems in the detection of hereditary diseases studied in the light of frequent examples]. Bruxelles medical, 1972, Volume: 52, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography; Clinical Enzyme Tests; Escherichia coli; Fluorometry; Genetic Diseases, Inborn; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Urine	1972
Presciptive screening for inborn errors of metabolism: a critique. American journal of mental deficiency, 1973, Volume: 77, Issue:5 Topics: Diagnosis, Differential; Diet Therapy; Evaluation Studies as Topic; False Positive Reactions; Heterozygote; Humans; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1973
Analysis of the "report on a cooperative study of various fluorometric procedures and the Guthrie Bacterial Inhibition Assay in the determination of hyperphenylalaninemia" and the significance of this study in the detection, diagnosis, and management of p Health laboratory science, 1973, Volume: 10, Issue:3 Topics: Age Factors; Autoanalysis; Diet Therapy; Fluorometry; Glutamates; Glutamine; Humans; Infant Nutrition Disorders; Infant, Newborn; Infant, Premature; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Quality Control; Tyrosine	1973
Screening for metabolic diseases in New South Wales. The Medical journal of Australia, 1973, Jun-09, Volume: 1, Issue:23 Topics: Australia; Biological Assay; Chromatography, Paper; Cystathionine; Cystinuria; Female; Hartnup Disease; Homocystinuria; Humans; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Seasons	1973
Austria newborn screening programme for inborn errors of metabolism. Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56 Topics: Austria; Female; Galactosemias; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sex Factors	1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study. Journal of mental deficiency research, 1973, Volume: 17, Issue:2 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
[Isotope use in the study of hereditary metabolic diseases]. Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6 Topics: Animals; Autoradiography; Blood Glucose; Brain Chemistry; Carbon Isotopes; Chromatography, Paper; Deficiency Diseases; Feces; Galactose; Glucokinase; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Leucine; Malabsorption Syndromes; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Radioisotope Dilution Technique; Radioisotopes; Rats; Tritium	1970
[Demands on screening tests in inborn anomalies of metabolism]. Wiener klinische Wochenschrift, 1970, Oct-18, Volume: 82, Issue:42 Topics: Bacillus subtilis; Chromatography; Chromatography, Paper; Culture Media; Galactose; Histidine; Humans; Infant, Newborn; Leucine; Mass Screening; Metabolism, Inborn Errors; Methionine; Phenylalanine; Tyrosine	1970
Biochemical approaches to the nosology of nervous system defects, III. Birth defects original article series, 1971, Volume: 7, Issue:1 Topics: Ammonia; Biopsy; Brain; Brain Chemistry; Brain Diseases; Cells, Cultured; Chromatography; Fabry Disease; Humans; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Lipidoses; Lipids; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Spectrometry, Fluorescence	1971
Oxidation of DL-3-phenylalanine-1- 14 C, DL-leucine-1- 14 C, and D-glucose-1- 14 C-6-phosphate to 14 CO 2 in human placenta. Journal of nuclear medicine : official publication, Society of Nuclear Medicine, 1972, Volume: 13, Issue:1 Topics: Carbon Dioxide; Carbon Isotopes; Glucosephosphates; Humans; In Vitro Techniques; Leucine; Metabolism, Inborn Errors; Methods; Oxidation-Reduction; Phenylalanine; Placenta	1972
[Studies on the frequencies of inborn errors of metabolism in Eastern and Western Austria]. Humangenetik, 1972, Volume: 15, Issue:2 Topics: Austria; Chromatography; Clinical Enzyme Tests; Galactosemias; Gene Frequency; Genetics, Population; Histidine; Humans; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Probability	1972
Screening tests for metabolic diseases. The Medical journal of Australia, 1972, Jan-01, Volume: 1, Issue:1 Topics: Australia; Blood Chemical Analysis; Chromatography, Paper; Humans; Infant; Infant, Newborn; Mass Screening; Metabolic Diseases; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1972
Hair amino acids: normal values and results in metabolic errors. Archives of disease in childhood, 1970, Volume: 45, Issue:243 Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Female; Glutamates; Hair; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; Phenylketonurias; Proteins	1970
Inborn errors of metabolism. Variability within single diseases. Clinical pediatrics, 1971, Volume: 10, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Female; Genes; Genetic Variation; Glucosephosphate Dehydrogenase Deficiency; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Mutation; Phenylalanine; Phenylketonurias	1971
[Hyperphenylalaninemia]. Casopis lekaru ceskych, 1971, Volume: 110, Issue:15 Topics: Adult; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Pedigree; Phenylalanine; Phenylketonurias; Pregnancy	1971
Mass screening of the newborn for metabolic disease. Archives of disease in childhood, 1968, Volume: 43, Issue:228 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
Paediatric screening for genetically determined metabolic diseases. Proceedings of the Royal Society of Medicine, 1968, Volume: 61, Issue:8 Topics: Child, Preschool; Chromatography; Humans; Infant; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	1968
[Tyrosinosis]. La Presse medicale, 1968, Jun-01, Volume: 76, Issue:27 Topics: Diet Therapy; Humans; Hypertension, Portal; Liver Cirrhosis; Metabolism, Inborn Errors; Phenylalanine; Renal Tubular Transport, Inborn Errors; Rickets; Tyrosine; Vitamin D	1968
[Tyrosinosis]. La Presse medicale, 1968, Jun-01, Volume: 76, Issue:27 Topics: Diet Therapy; Humans; Hypertension, Portal; Liver Cirrhosis; Metabolism, Inborn Errors; Phenylalanine; Renal Tubular Transport, Inborn Errors; Rickets; Tyrosine; Vitamin D	1968
[On the diagnosis and therapy of metabolic brain damage in childhood]. Wiener medizinische Wochenschrift (1946), 1969, Mar-15, Volume: 119, Issue:11 Topics: Ammonia; Brain Damage, Chronic; Child; Child, Preschool; Diet Therapy; Female; Humans; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias	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
["Borderline" forms of phenylketonuria]. Annales de pediatrie, 1964, Mar-02, Volume: 11, Issue:3 Topics: Adolescent; Child, Preschool; Humans; Infant; Intellectual Disability; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Serotonin; Tryptophan	1964
[Metabolic disorders of phenylalanine and tyrosine]. Shinkei kenkyu no shimpo. Advances in neurological sciences, 1965, Volume: 9, Issue:2 Topics: Animals; Humans; Metabolic Diseases; Metabolism, Inborn Errors; Phenylalanine; Tyrosine	1965