Page last updated: 2024-08-21

sapropterin and Amino Acid Metabolism Disorders, Inborn

sapropterin has been researched along with Amino Acid Metabolism Disorders, Inborn in 46 studies

Research

Studies (46)

Timeframe	Studies, this research(%)	All Research%
pre-1990	19 (41.30)	18.7374
1990's	16 (34.78)	18.2507
2000's	9 (19.57)	29.6817
2010's	1 (2.17)	24.3611
2020's	1 (2.17)	2.80

Authors

Authors	Studies
Çıkı, K; Dursun, A; Özgül, RK; Pektaş, E; Sivri, HS; Tokatlı, A; Yıldız, Y; Yücel Yılmaz, D	1
Danecka, MK; Gersting, SW; Kemter, KF; Lagler, FB; Messing, DD; Muntau, AC; Roscher, AA; Sommerhoff, CP; Staudigl, M	1
Aziz, M; Banka, S; Blom, HJ; Clouthier, CM; Crow, YJ; de Brouwer, AP; Heales, S; Hilton, E; Jones, S; Newman, WG; Pelletier, JN; Rice, GI; Smith, DE; Smulders, YM; Steinfeld, R; Urquhart, J; Vassallo, G; Walter, J; Wevers, RA; Will, A	1
Ding, Z; Martínez, A; Thöny, B	1
Guttler, F; Koch, R; Moseley, K	1
Antonozzi, I; Artiola, C; Carducci, C; Chiarotti, F; Giovanniello, T; Leuzzi, V	1
Blau, N; Demirkol, M; Fiege, B; Fiori, L; Gärtner, KH; Giovannini, M; Ozen, I; Thöny, B; Zurflüh, MR	1
Dhondt, JL	2
Takada, G	1
Güttler, F; Lou, H; Lykkelund, C; Niederwieser, A	1
Clow, CL; Scriver, CR	1
Blau, N; Coskun, T; Niederwieser, A; Ozalp, I; Tokatli, A	1
Heales, SJ; Hyland, K	1
Blau, N; Coelho, JC; Dutra-Filho, CS; Giugliani, R; Jardim, LB	1
Kaufman, S; Milstien, S; Sakai, N	1
Blau, N; Harvie, A; Heizmann, CW; Leimbacher, W; Thöny, B	1
Cotton, RG; Dianzani, I; Howells, DW; Ponzone, A; Saleeba, JA; Smooker, PM	1
Citron, BA; Davis, MD; Greene, CL; Kaufman, S; Milstien, S; Naylor, EW	1
Blau, N; Ferraris, S; Guardamagna, O; Kierat, L; Ponzone, A; Ponzone, R; Spada, M	1
Cotton, RG; Dianzani, I; Ferrero, GB; Guardamagna, O; Ponzone, A; Ponzone, R; Spada, M	1
Barnes, I; Blau, N; Dhondt, JL	1
Pogson, D	1
Kaufman, S	3
Asada, M; Isshiki, G; Sawada, Y; Shintaku, H	1
Suzuki, T	1
Erlandsen, H; Stevens, RC	1
Hoffmann, GF; Mayatepek, E; Schulze, A	1
Shintaku, H	3
Blau, N; Cotton, RG; Heizmann, CW; Hoffmann, GF; Korenke, GC; Smooker, PM; Sperl, W	1
al Aqeel, A; al Nasser, M; Blau, N; Brismar, J; Gascon, G; Hughes, H; Nester, M; Ozand, PT; Reynolds, CT; Subramanyan, SB	1
Miyatake, T; Nakajima, T; Owada, M; Tanaka, K; Yoneda, M	1
Curtius, HC; Niederwieser, A	1
Blau, N; Matalon, R; Michals, K; Rouse, B	1
Matsuo, N	1
Bracco, G; Ferraris, S; Guardamagna, O; Ponzone, A	1
Collins, JE; Leonard, JV	1
Curtius, HC; Niederwieser, A; Ponzone, A	1
Hyland, K; Kendall, B; Smith, I	1
Cotton, RG; Danks, DM; Dhondt, JL	1
Fukuda, K; Hyodo, S; Kobayashi, Y; Tanaka, T; Usui, T	1
Hase, Y; Kodama, S; Matsuo, T; Nishio, H; Sawada, Y; Takahashi, T; Takumi, T	1

Reviews

13 review(s) available for sapropterin and Amino Acid Metabolism Disorders, Inborn

Article	Year
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. The Journal of pediatrics, 1984, Volume: 104, Issue:4 Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Folic Acid; GTP Cyclohydrolase; Humans; Infant; Infant, Newborn; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Pteridines	1984
[Brain function in inborn error of amino acid metabolism]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1984, Volume: 29, Issue:14 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biopterins; Blood-Brain Barrier; Brain; Humans; Phenylketonurias	1984
Phenylketonuria and other phenylalanine hydroxylation mutants in man. Annual review of genetics, 1980, Volume: 14 Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Dihydropteridine Reductase; Female; Fetal Diseases; Gene Frequency; Genetic Carrier Screening; Heterozygote; Humans; Hydroxylation; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pregnancy; Pregnancy Complications; Rats	1980
[Disorders of tetrahydrobiopterin homeostasis]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Hydro-Lyases; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Prognosis	1998
[Inborn errors of catecholamine metabolism]. Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4 Topics: Amino Acid Metabolism, Inborn Errors; Aromatic-L-Amino-Acid Decarboxylases; Biopterins; Catecholamines; Diagnosis, Differential; Dopamine beta-Hydroxylase; Humans; Monoamine Oxidase; Nervous System Diseases; Prognosis	2000
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Biopterins; Humans; Molecular Sequence Data; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation	2001
Disorders of tetrahydrobiopterin metabolism and their treatment. Current drug metabolism, 2002, Volume: 3, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biopterins; Humans; Phenylalanine	2002
[Detection, differential diagnosis, and prenatal diagnosis of tetrahydrobiopterin deficiency]. Archives francaises de pediatrie, 1987, Volume: 44 Suppl 1 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Female; Guanosine Triphosphate; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Phenylalanine; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis	1987
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. Advances in pediatrics, 1989, Volume: 36 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant, Newborn; Phenylalanine; Prenatal Diagnosis	1989
[Tetrahydrobiopterin deficiency. Lessons from the analysis of 90 patients collected in the international register]. Archives francaises de pediatrie, 1987, Volume: 44 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Body Fluids; Female; Humans; Infant, Newborn; Male; Phenylalanine; Registries; Synaptic Transmission	1987
Hyperphenylalaninemia syndromes: current status of diagnosis and management. The Keio journal of medicine, 1988, Volume: 37, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Hydroxylation; Infant, Newborn; Phenylalanine; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Syndrome	1988
Enzymology of the phenylalanine-hydroxylating system. Enzyme, 1987, Volume: 38, Issue:1-4 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Hydroxylation; Mixed Function Oxygenases; Phenylalanine; Phenylalanine Hydroxylase	1987
The dietary management of inborn errors of metabolism. Human nutrition. Applied nutrition, 1985, Volume: 39, Issue:4 Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Biopterins; Child; Child, Preschool; Cystathionine beta-Synthase; Dietary Carbohydrates; Dietary Proteins; Energy Metabolism; Fructose Intolerance; Galactosemias; Gluconeogenesis; Glycogen Storage Disease Type I; Homocystinuria; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine Hydroxylase; Phenylketonurias	1985

Trials

1 trial(s) available for sapropterin and Amino Acid Metabolism Disorders, Inborn

Article	Year
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Humans; Infant; Nervous System Diseases; Oxidoreductases	1993

Other Studies

32 other study(ies) available for sapropterin and Amino Acid Metabolism Disorders, Inborn

Article	Year
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant. Metabolic brain disease, 2021, Volume: 36, Issue:6 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
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. American journal of human genetics, 2008, Volume: 83, Issue:1 Topics: Administration, Oral; Allosteric Regulation; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Amino Acid Substitution; Binding Sites; Biopterins; Catalytic Domain; Computer Simulation; Dimerization; Endopeptidase K; Enzyme Stability; Female; Hot Temperature; Humans; Hydrogen Bonding; Hydrolysis; Hydrophobic and Hydrophilic Interactions; Infant, Newborn; Kinetics; Luminescence; Male; Models, Molecular; Motion; Mutation, Missense; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Conformation; Protein Denaturation; Protein Folding; Protein Structure, Secondary; Protein Structure, Tertiary; Protein Subunits; Recombinant Fusion Proteins; Static Electricity	2008
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. American journal of human genetics, 2011, Feb-11, Volume: 88, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Anemia, Megaloblastic; Base Sequence; Biopterins; Brain; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant; Leucovorin; Magnetic Resonance Imaging; Male; Models, Molecular; Molecular Sequence Data; Pancytopenia; Pedigree; Protein Conformation; Sequence Homology, Amino Acid; Tetrahydrofolate Dehydrogenase	2011
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS letters, 2004, Nov-19, Volume: 577, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Biopterins; Blotting, Western; Gene Deletion; Gene Expression Regulation, Enzymologic; Genes, Recessive; Heterozygote; Humans; Kinetics; Liver; Mice; Mice, Knockout; Mice, Transgenic; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Protein Biosynthesis; RNA, Messenger; Transcription, Genetic	2004
Tetrahydrobiopterin and maternal PKU. Molecular genetics and metabolism, 2005, Volume: 86 Suppl 1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Combined Modality Therapy; Diet, Protein-Restricted; Female; Humans; Infant, Newborn; Mutation; Neonatal Screening; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonuria, Maternal; Phenylketonurias; Pregnancy	2005
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Genetic Variation; Humans; Infant; Male; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	2006
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:6 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Area Under Curve; Biopterins; Genotype; Humans; Kinetics; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Time Factors	2006
Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis. European journal of pediatrics, 1984, Volume: 142, Issue:2 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Electroencephalography; Female; Humans; Neopterin; Phenylalanine; Pteridines	1984
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Diet; Electrochemistry; Female; Humans; Male; Phenylalanine	1993
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Brazil; Child; Child, Preschool; Humans; Neopterin; Phenylalanine; White People	1994
Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:6 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Cells, Cultured; Fibroblasts; Humans; Infant, Newborn; Interferon-gamma; Phenylalanine; Skin; Tumor Necrosis Factor-alpha	1993
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. American journal of human genetics, 1994, Volume: 54, Issue:5 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Biopterins; Cloning, Molecular; DNA; DNA, Complementary; Escherichia coli; Female; Fibroblasts; Gene Expression; Humans; Infant, Newborn; Male; Molecular Sequence Data; Oligonucleotide Probes; Phenylalanine; Phosphorus-Oxygen Lyases; Point Mutation; Polymerase Chain Reaction; Reference Values	1994
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. Journal of medical genetics, 1993, Volume: 30, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Aspartic Acid; Base Sequence; Biopterins; Conserved Sequence; Dihydropteridine Reductase; DNA Mutational Analysis; Glycine; Humans; Infant; Infant, Newborn; Male; Molecular Sequence Data; Nucleic Acid Heteroduplexes; Point Mutation; Tryptophan	1993
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. American journal of human genetics, 1993, Volume: 53, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Arginine; Base Sequence; Biopterins; Cysteine; DNA Mutational Analysis; DNA-Binding Proteins; Gene Expression Regulation, Enzymologic; Hepatocyte Nuclear Factor 1; Hepatocyte Nuclear Factor 1-alpha; Hepatocyte Nuclear Factor 1-beta; Humans; Hydro-Lyases; Infant; Male; Molecular Sequence Data; Nuclear Proteins; Pedigree; Phenylalanine; Phenylketonurias; Point Mutation; Transcription Factors	1993
Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. European journal of pediatrics, 1993, Volume: 152, Issue:8 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Chemical Analysis; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases	1993
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. Pediatric research, 1993, Volume: 33, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Catalysis; Child; Child, Preschool; Female; Humans; Hydroxylation; Infant; Male; Phenylalanine; Phenylketonurias	1993
International database of tetrahydrobiopterin deficiencies. Journal of inherited metabolic disease, 1996, Volume: 19, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Computer Communication Networks; Data Collection; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Pterins; Software; Terminology as Topic	1996
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia. Journal of intellectual disability research : JIDR, 1997, Volume: 41 ( Pt 3) Topics: Adult; Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Genes, Recessive; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Social Behavior	1997
Genetic disorders involving recycling and formation of tetrahydrobiopterin. Advances in pharmacology (San Diego, Calif.), 1998, Volume: 42 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Incidence; Infant, Newborn; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias	1998
Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. Clinica chimica acta; international journal of clinical chemistry, 2002, Volume: 317, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Blood Specimen Collection; Calibration; Colorimetry; False Positive Reactions; Germany; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Reference Values; Reproducibility of Results	2002
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. Pediatric research, 1992, Volume: 32, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child, Preschool; Dihydropteridine Reductase; DNA Mutational Analysis; Erythrocytes; Female; Humans; Hydroxyindoleacetic Acid; Infant; Male; Phenylalanine; Phenylketonurias; Pterins; Skin	1992
[The metabolic basis of the hyperphenylalaninemias and tyrosinemia]. Nihon rinsho. Japanese journal of clinical medicine, 1992, Volume: 50, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; DNA; Humans; Hydrolases; Phenylalanine; Phenylalanine Hydroxylase; Polymorphism, Restriction Fragment Length; Tyrosine; Tyrosine Transaminase	1992
Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology, 1991, Volume: 41, Issue:5 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Infant; Male; Nervous System Diseases; Phenylalanine; Phosphorus-Oxygen Lyases; Saudi Arabia	1991
Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. Neurology, 1987, Volume: 37, Issue:3 Topics: Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Circadian Rhythm; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Neopterin; Phenylalanine	1987
[Malignant hyperphenylalaninemia--tetrahydrobiopterin (BH4) deficiency]. Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pterins	1988
[Trial of indirect screening of tetrahydrobiopterin deficiency]. Pediatrie, 1987, Volume: 42, Issue:7 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Infant; Phenylalanine; Phenylketonurias; Tyrosine	1987
Hyperphenylalaninaemia caused by defects in biopterin metabolism. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biogenic Amines; Biopterins; Brain; Humans; Phenylalanine; Phenylketonurias; Pteridines	1985
Differential diagnosis of tetrahydrobiopterin deficiency. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Humans; Phenylalanine; Phenylketonurias; Pteridines	1985
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1 Topics: Amino Acid Metabolism, Inborn Errors; Biogenic Amines; Biopterins; Brain; Folic Acid; Folic Acid Deficiency; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines	1985
Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin. Journal of inherited metabolic disease, 1985, Volume: 8, Issue:2 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Humans; Liver; Neopterin; Phenylalanine; Pterins	1985
Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: leukocyte function and effect of tetrahydrobiopterin therapy. Journal of inherited metabolic disease, 1985, Volume: 8, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Female; Humans; Leukocytes; Male; Phenylalanine	1985
Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine. Journal of inherited metabolic disease, 1985, Volume: 8, Issue:3 Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; Female; Humans; Infant, Newborn; Neopterin; Phenylalanine; Remission, Spontaneous	1985