Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients

Chinese Journal of Medical Genetics

Volumn 24, Issue 3, 2007, Pages 310-313

  Yang, Ling ^a   Zhang, Zhi Xin ^a   Ye, Jun ^b   Zhou, Zhong Shu ^a   Shen, Ming ^a   Han, Lian Shu ^b   Qiu, Wen Juan ^b   Yu, Wei Min ^c   Gu, Xue Fan ^b  

^a CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c China Japan Friendship Institute of Medical Sciences   (China)

Author keywords

BH4 deficiency; BH4 responsive phenylalanine hydroxylase deficiency; Phenylketonuria

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; PHENYLALANINE; PTERIN; TETRAHYDROBIOPTERIN;

ARTICLE; BLOOD FILTER; CHILD; CONTROLLED STUDY; DRUG RESPONSE; ENZYME ANALYSIS; FEMALE; GEOGRAPHIC DISTRIBUTION; HUMAN; LOADING DRUG DOSE; MAJOR CLINICAL STUDY; MALE; PHENYLKETONURIA;

BIOPTERIN; CHILD, PRESCHOOL; CHINA; DIHYDROPTERIDINE REDUCTASE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENYLALANINE; PHENYLKETONURIAS; TIME FACTORS;

EID: 34250878373     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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