6-Pyruvoyltetrahydropterin synthase deficiency two-case report

Journal of the Medical Association of Thailand

Volumn 89, Issue 6, 2006, Pages 872-877

  Pangkanon, Suthipong ^a   Charoensiriwatana, Wiyada ^b   Liamsuwan, Sahas ^a  

^a QUEEN SIRIKIT NATIONAL INSTITUTE OF CHILD HEALTH   (Thailand)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

6 Pyruvoyltetrahydropterin synthase; Hyperphenylalaninemia; Tetrahydrobiopterin

Indexed keywords

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

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY; ARTICLE; BLOOD SAMPLING; CASE REPORT; CLINICAL FEATURE; DIET THERAPY; ENZYME DEFICIENCY; EXON; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; INFANT; MALE; NEWBORN SCREENING; PHYSICAL EXAMINATION; POINT MUTATION; SYMPTOMATOLOGY; THAILAND; URINALYSIS;

HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PHENYLALANINE; PHOSPHORUS-OXYGEN LYASES; POINT MUTATION; PTERINS;

EID: 33745991970     PISSN: 01252208     EISSN: 01252208     Source Type: Journal    
DOI: None     Document Type: Article

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