Isolated sulfite oxidase deficiency: A case report with a novel mutation and review of the literature

Pediatrics

Volumn 116, Issue 3, 2005, Pages 757-766

  Tan, Wen Hann ^a   Eichler, Florian S ^a   Hoda, Sadaf ^b   Lee, Melissa S ^a   Baris, Hagit ^a   Hanley, Catherine A ^b   Grant, P Ellen ^b   Krishnamoorthy, Kalpathy S ^b   Shih, Vivian E ^b,c  

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c Amino Acid Disorders Laboratory   (United States)

Author keywords

Inborn error of metabolism; Molybdenum cofactor; Sulfite; Sulfite oxidase; SUOX gene

Indexed keywords

CYSTEINE; DEXTROMETHORPHAN; GENOMIC DNA; HOMOCYSTEINE; METHIONINE; S SULFOCYSTEINE; SULFITE; SULFITE OXIDASE; THIAMINE; THIOSULFATE; UNCLASSIFIED DRUG;

ANAMNESIS; AUTOPSY; BLOOD CULTURE; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID CULTURE; CLINICAL FEATURE; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; ECTOPIA LENTIS; ENCEPHALOMALACIA; EXON; HUMAN; INFANT; MALE; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; SEIZURE; BASE PAIRING; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENE DELETION; GENETICS; METABOLIC ENCEPHALOPATHY; METABOLISM; MUTATION; NEWBORN;

AMINO ACID METABOLISM, INBORN ERRORS; BASE PAIRING; BRAIN DISEASES, METABOLIC, INBORN; CYSTEINE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHIONINE; MUTATION; SEQUENCE DELETION; SULFITE OXIDASE;

EID: 33644625000     PISSN: 00314005     EISSN: 00314005     Source Type: Journal    
DOI: 10.1542/peds.2004-1897     Document Type: Review

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