Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency

Journal of Inherited Metabolic Disease

Volumn 32, Issue SUPPL. 1, 2009, Pages

  Vatanavicharn, N ^a   Kuptanon, C ^a   Liammongkolkul, S ^a   Liu, T T ^b   Hsiao, K J ^c   Ratanarak, P ^a   Blau, N ^d   Wasant, P ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; DRUG DERIVATIVE; LYASE; PTERIN DERIVATIVE; TETRAHYDROBIOPTERIN;

BINDING SITE; CASE REPORT; ENZYMOLOGY; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; METABOLISM; MISSENSE MUTATION; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PHENYLKETONURIA; REVIEW; THAILAND;

BINDING SITES; BIOPTERIN; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; MUTATION, MISSENSE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; PTERINS; THAILAND;

EID: 84881074726     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1221-x     Document Type: Article

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