Molybdenum cofactor deficiency - Phenotypic variability in a family with a late-onset variant

Developmental Medicine and Child Neurology

Volumn 40, Issue 1, 1998, Pages 57-61

  Hughes, Elaine F ^a   Fairbanks, Lynnette ^b   Simmonds, H Anne ^b   Robinson, Richard O ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE; MOLYBDENUM; SULFITE; SULFITE OXIDASE; URIC ACID; XANTHINE;

ARTICLE; CASE REPORT; CRYING; DYSTONIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEEDING DISORDER; FEMALE; FIBROBLAST; HUMAN; IRRITABILITY; LANGUAGE DISABILITY; LENS LUXATION; LETHARGY; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SIBLING; URIC ACID BLOOD LEVEL; URINE LEVEL;

EID: 0031963224     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1998.tb15357.x     Document Type: Article

References (14)

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