Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese

Clinica Chimica Acta

Volumn 313, Issue 1-2, 2001, Pages 157-169

  Liu, Tze Tze ^a   Chiang, Szu Hui ^b   Wu, Sheu Jen ^b   Hsiao, Kwang Jen ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

6 Pyruvoyol tetrahydropterin synthase; Chinese; Dihydropteridine reductase; Hyperphenylalaninemia; Tetrahydrobiopterin

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; COMPLEMENTARY DNA; DIHYDROPTERIDINE REDUCTASE; MESSENGER RNA; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ALLELE; CAUCASIAN; CHINESE; CONFERENCE PAPER; CONSANGUINITY; CONTROLLED STUDY; DELETION MUTANT; HUMAN; HYDROXYLATION; HYPERPHENYLALANINEMIA; MISSENSE MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SCHOOL CHILD; TAIWAN;

5-HYDROXYTRYPTOPHAN; BIOPTERIN; DIAGNOSIS, DIFFERENTIAL; DIHYDROPTERIDINE REDUCTASE; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; LEVODOPA; MASS SCREENING; MUTATION; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; PREGNANCY; PRENATAL DIAGNOSIS; TAIWAN; TREATMENT OUTCOME;

EID: 0034747949     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(01)00669-6     Document Type: Conference Paper

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