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Find link is a tool written by Edward Betts .
Longer titles found:
Mild non-BH4-deficient hyperphenylalaninemia (view )
searching for Hyperphenylalaninemia 8 found (29 total)
alternate case: hyperphenylalaninemia
Phenylketonuria
(6,160 words)
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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)
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"Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". American Journal of Human Genetics
PTS (gene)
(823 words)
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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)
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errors of amino acid metabolism Tyrosinemia II Argininemia Benign hyperphenylalaninemia Defects of biopterin cofactor biosynthesis Defects of biopterin
Sepiapterin reductase
(1,308 words)
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tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia ". Am. J. Hum. Genet. 69 (2): 269–277. doi:10.1086/321970. PMC 1235302
Biopterin
(752 words)
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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)
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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)
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233910; GCH1 Hyperphenylalaninemia , BH4-deficient, A; 261640; PTS Hyperphenylalaninemia , BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia , BH4-deficient