Farber disease: clinical presentation, pathogenesis and a new approach to treatment
نویسندگان
چکیده
منابع مشابه
Farber disease: clinical presentation, pathogenesis and a new approach to treatment
BACKGROUND Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes. Children with significant neurological involvement usually die early in infancy, whereas patients without or only mild neurological findings suffer from progressive joint deformation and contractures, subcutaneous nodu...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2007
ISSN: 1546-0096
DOI: 10.1186/1546-0096-5-15