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Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient
Author(s) -
Schiaffino M. C.,
Fantasia A. R.,
Minniti G.,
Caruso U.,
Carnevale F.,
Cerone R.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000016674.61073.e4
Subject(s) - medicine , pediatrics , human genetics , biochemistry , chemistry , gene
Summary: A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic lesions.