Isolated sulphite oxidase deficiency: Clinical and biochemical features in an Italian patient

M. Cristina Schiaffino, A. R. Fantasia, G. Minniti, U. Caruso, F. Carnevale, R. Cerone

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)101-102
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number1
DOIs
Publication statusPublished - 2004

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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