A novel mutation in neonatal isolated sulphite oxidase deficiency

Neuropediatrics

Volumn 33, Issue 4, 2002, Pages 174-179

  Lee, H F ^a   Mak, B S C ^a   Chi, Ching Shiang ^a   Tsai, C R ^a   Chen, C H ^a   Shu, S G ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Hypoxic Ischemic Encephalopathy; Isolated Sulphite Oxidase Deficiency; Multicystic Leukoencephalopathy; Neonatal Onset

Indexed keywords

AMINO ACID; ARGININE; CYSTINE; GLUTAMINE; METHIONINE; PHENOBARBITAL; SULFITE; SULFITE OXIDASE; TYROSINE; URIC ACID; XMET CYS MAXAMAID;

ALLELE; ARTICLE; BRAIN ATROPHY; BRAIN EDEMA; BRAIN HYPOXIA; BRAIN ISCHEMIA; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; LEUKOENCEPHALOPATHY; MALE; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; SEIZURE; SULFITE OXIDASE DEFICIENCY; URIC ACID BLOOD LEVEL; URINALYSIS;

DEFICIENCY DISEASES; HUMANS; INFANT, NEWBORN; MALE; MUTATION; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS;

EID: 0036694940     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2002-34491     Document Type: Article

References (15)

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