Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency

Journal of Inherited Metabolic Disease

Volumn 29, Issue 1, 2006, Pages 127-134

  Wang, L ^a   Yu, W M ^a   He, C ^a   Chang, M ^a   Shen, M ^a   Zhou, Z ^a   Zhang, Z ^a   Shen, S ^a   Liu, T T ^b   Hsiao, K J ^b  

^a CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; LEVODOPA; TETRAHYDROBIOPTERIN;

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ARTICLE; CALCIFICATION; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORRELATION ANALYSIS; DEVELOPMENTAL DISORDER; DRUG EFFICACY; ENZYME DEFICIENCY; HUMAN; INFANT; MYELINATION; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PROGNOSIS; STATISTICAL SIGNIFICANCE; TREATMENT DURATION; TREATMENT OUTCOME; TREATMENT RESPONSE; WHITE MATTER;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM DISEASES; PHENYLALANINE; PHOSPHORUS-OXYGEN LYASES; TIME FACTORS; TREATMENT OUTCOME;

EID: 33645656075     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0080-y     Document Type: Article

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