Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China.

Zhonghua er ke za zhi. Chinese journal of pediatrics

Volumn 46, Issue 4, 2008, Pages 281-285

  Ye, Jun ^a   Qiu, Wen juan ^b   Han, Lian shu ^b   Zhang, Hui wen ^b   Zhou, Jian de ^b   Gao, Xiao lan ^b   Wang, Y ^b   Gu, Xue fan ^b  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE; DIHYDROPTERIDINE REDUCTASE; LYASE; PHENYLALANINE;

ARTICLE; BLOOD; CASE REPORT; CHINA; GENETICS; HUMAN; INFANT; MALE; MUTATION; PHENYLKETONURIA;

CHINA; DIHYDROPTERIDINE REDUCTASE; HUMANS; INFANT; MALE; MUTATION; PHENYLALANINE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES;

EID: 84865266072     PISSN: 05781310     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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