Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

Journal of Inherited Metabolic Disease

Volumn 35, Issue 6, 2012, Pages 1031-1036

  Mills, Philippa B ^a   Footitt, Emma J ^a   Ceyhan, Serkan ^b   Waters, Paula J ^c   Jakobs, Cornelis ^b   Clayton, Peter T ^a   Struys, Eduard A ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITÉ DE SHERBROOKE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

2 AMINOADIPIC ACID; ALPHA AMINOACIDIPIC SEMIALDEHYDE; ALPHA AMINOACIDIPIC SEMIALDEHYDE DEHYDROGENASE; CREATININE; CYSTEINE; LEVO SULPHOCYSTEINE; OXIDOREDUCTASE; OXOAMINO ACID; PIPECOLIC ACID; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; HUMAN; HUMAN TISSUE; ISOLATED SULPHITE OXIDASE DEFICIENCY; LIVER HOMOGENATE; MOLYBDENUM COFACTOR DEFICIENCY; NEWBORN; SCHOOL CHILD; URINARY EXCRETION;

2-AMINOADIPIC ACID; ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; COENZYMES; CYSTEINE; HUMANS; INFANT, NEWBORN; L-AMINOADIPATE-SEMIALDEHYDE DEHYDROGENASE; LYSINE; METABOLIC NETWORKS AND PATHWAYS; METAL METABOLISM, INBORN ERRORS; METALLOPROTEINS; MODELS, BIOLOGICAL; MOLYBDOFERREDOXIN; OXIDOREDUCTASES ACTING ON SULFUR GROUP DONORS; PTERIDINES; SULFITE OXIDASE; SULFITES;

EID: 84867854367     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9466-1     Document Type: Article

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