SCOPUS 정보 검색 플랫폼

Volumn 24, Issue 3, 2001, Pages 352-358

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

(13) Spaapen, L J M a Bakker, J A a Velter, C a Loots, W a Rubio Gonzalbo, M E b Forget, P P b Dorland, L c De Koning, T J c Poll The, B T c Ploos Van Amstel, H K c Bekhof, J d Blau, N e Duran, M c

a Stichting Klinische Genetica Zuid Oost Nederland (Netherlands)

b MAASTRICHT UNIVERSITY MEDICAL CENTER (Netherlands)

c UNIVERSITY MEDICAL CENTER UTRECHT (Netherlands)

d UNIVERSITY MEDICAL CENTER GRONINGEN (Netherlands)

e UNIVERSITY CHILDREN S HOSPITAL (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; DNA; NEUROTRANSMITTER; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PTERIN DERIVATIVE; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LOADING TEST; METABOLITE; NETHERLANDS; NEWBORN; SCREENING TEST; URINALYSIS;

BIOPTERIN; DIAGNOSIS, DIFFERENTIAL; DIHYDROPTERIDINE REDUCTASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT, NEWBORN; KINETICS; MUTATION; NETHERLANDS; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PTERINS;

EID: 0034923705 PISSN: 01418955 EISSN: None Source Type: Journal
DOI: 10.1023/A:1010596317296 Document Type: Article

Times cited : (42)

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