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Longer titles found: Mild non-BH4-deficient hyperphenylalaninemia (view)

searching for Hyperphenylalaninemia 8 found (29 total)

alternate case: hyperphenylalaninemia

Phenylketonuria (6,160 words) [view diff] exact match in snippet view article find links to article

Classical PKU, and its less severe forms "mild PKU" and "mild hyperphenylalaninemia" are caused by a mutated gene for the enzyme phenylalanine hydroxylase
PCBD1 (1,069 words) [view diff] exact match in snippet view article find links to article
"Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". American Journal of Human Genetics
PTS (gene) (823 words) [view diff] exact match in snippet view article
PMID 1282802. Scriver CR, Clow CL, Kaplan P, Niederwieser A (1987). "Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual
List of disorders included in newborn screening programs (716 words) [view diff] exact match in snippet view article find links to article
errors of amino acid metabolism Tyrosinemia II Argininemia Benign hyperphenylalaninemia Defects of biopterin cofactor biosynthesis Defects of biopterin
Sepiapterin reductase (1,308 words) [view diff] exact match in snippet view article find links to article
tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia". Am. J. Hum. Genet. 69 (2): 269–277. doi:10.1086/321970. PMC 1235302
Biopterin (752 words) [view diff] exact match in snippet view article find links to article
neurotransmitters. Biopterin synthesis disorders are also a cause of hyperphenylalaninemia; phenylalanine metabolism requires BH4 as a cofactor. In psychiatry
Harvey Levy (academic) (1,013 words) [view diff] exact match in snippet view article
1970;48:390-397. Lenke RR, Levy HL. Maternal Phenylketonuria and Hyperphenylalaninemia. An International Survey of the Outcome of Untreated and Treated
List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article
233910; GCH1 Hyperphenylalaninemia, BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient