Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China

Chinese Medical Journal

Volumn 115, Issue 2, 2002, Pages 217-221

  Liu, Wei ^a   Tong, Ti ^a   Ji, Zhendong ^a   Zhang, Zhenhe ^a  

^a JILIN UNIVERSITY   (China)

Author keywords

Gene mutation; Neonatal screening; Phenylketonuria; Tetrahydrobiopterin deficiency

Indexed keywords

5 HYDROXYTRYPTOPHAN; 6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; BIOPTERIN; CARBIDOPA; LEVODOPA; NEOPTERIN; NEUROTRANSMITTER; PHENYLALANINE; TETRAHYDROBIOPTERIN;

AMINO ACID BLOOD LEVEL; ARTICLE; CHILD; CHINA; CONTROLLED STUDY; DIAGNOSTIC ERROR; DISEASE COURSE; ENZYME DEFICIENCY; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERPHENYLALANINEMIA; INCIDENCE; INFANT; LOADING TEST; MAJOR CLINICAL STUDY; MENTAL DEVELOPMENT; PARENT; SCREENING TEST; SYMPTOMATOLOGY; TREATMENT OUTCOME; URINALYSIS;

BIOPTERIN; CHINA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FOLLOW-UP STUDIES; GENETIC SCREENING; HUMANS; MUTATION, MISSENSE; NEOPTERIN; PHENYLKETONURIAS; PHOSPHORUS-OXYGEN LYASES;

EID: 0036197257     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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14. On-off phenomenon in a child with tetrehydrobiopterin deficiency due to 6- pyruvoyl-tetrahydropterin synthase deficiency (BH4 deficiency)
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16. Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin