Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

Journal of Inherited Metabolic Disease

Volumn 19, Issue 5, 1996, Pages 700-701

  Bonioli, E ^a  

^a Istituto di Clinical Pediatrica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MOLYBDENUM; SULFITE OXIDASE; XANTHINE OXIDASE;

AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; ENZYME DEFICIENCY; FEMALE; HUMAN; HUMAN CELL; INFANT; LABORATORY TEST; NEUROLOGIC DISEASE; TONIC CLONIC SEIZURE; URINALYSIS;

EID: 0029792656     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799850     Document Type: Article

References (2)

1. Johnson JL, Wadman SK (1995) Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2271-2283.
2. Simmonds HA, Duley JA, Davies PM (1991) Analysis of purine and pyrimidines in blood, urine, and other physiological fluids. In: Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 397-424.