Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency

Prenatal Diagnosis

Volumn 23, Issue 1, 2003, Pages 6-8

  Johnson, Jean L ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

GEPH; Gephyrin; MOCS1; MOCS2; MOCS3; Molybdenum cofactor; Sulfite oxidase; SUOX

Indexed keywords

MOLYBDENUM COFACTOR; MOLYBDENUM COMPLEX; SULFITE OXIDASE; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CHORION VILLUS SAMPLING; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME ISOLATION; FAMILIAL DISEASE; FEMALE; FETUS MONITORING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GEPH GENE; HUMAN; INBORN ERROR OF METABOLISM; METAL BINDING; MOCS1 GENE; MOCS2 GENE; NEUROLOGIC DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; SUOX GENE; SYMPTOMATOLOGY;

ADULT; BRAIN DISEASES, METABOLIC, INBORN; CARRIER PROTEINS; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; COENZYMES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LINKAGE (GENETICS); MEMBRANE PROTEINS; METALLOPROTEINS; NUCLEAR PROTEINS; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; PREGNANCY; PTERIDINES; SULFURTRANSFERASES;

EID: 0037238787     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.505     Document Type: Review

References (15)

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