Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: Results of a retrospective, multicentre study

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 893-901

  Ye, Jun ^a   Yang, Yanling ^b   Yu, Weimin ^c   Zou, Hui ^d   Jiang, Jianhui ^e   Yang, Rulai ^f   Shang, Sunny ^g   Gu, Xuefan ^a,h  

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

^b PEKING UNIVERSITY FIRST HOSPITAL   (China)

^c CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^d JINAN MATERNITY AND CHILD CARE HOSPITAL   (China)

^e Maternal and Child Health Care Hospital   (China)

^f ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^g MERCK KGAA   (Germany)

^h NONE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; ADENINE; ASPARAGINE; ASPARTIC ACID; CARBIDOPA; CYSTEINE; CYTOSINE; DIHYDROPTERIDINE REDUCTASE; FOLINIC ACID; GUANINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; PHENYLALANINE; PROLACTIN; PROLINE; SERINE; TETRAHYDROBIOPTERIN; THYMINE;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; CAUSE OF DEATH; CHILD; CHINA; DEMOGRAPHY; DIAGNOSTIC ERROR; DIARRHEA; DIET THERAPY; DIHYDROPTERIDINE REDUCTASE DEFICIENCY; DISEASE EXACERBATION; DRUG BLOOD LEVEL; DRUG DOSE INCREASE; DRUG MEGADOSE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENE DELETION; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I DEFICIENCY; HEADACHE; HUMAN; INFANT; INFECTION; INTELLECTUAL IMPAIRMENT; LOADING TEST; LOW DRUG DOSE; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MORTALITY; MUTATIONAL ANALYSIS; NAUSEA AND VOMITING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENYLKETONURIA; PRESCHOOL CHILD; PROLACTIN BLOOD LEVEL; PTS GENE; QDPR GENE; RASH; RETROSPECTIVE STUDY; RNA SPLICING; SCHOOL CHILD; TETRAHYDROBIOPTERIN DEFICIENCY; TIC; UNSPECIFIED SIDE EFFECT; URINALYSIS; WECHSLER INTELLIGENCE SCALE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84884354807     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9550-6     Document Type: Article

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