Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology
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منابع مشابه
Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology
» This represents a truly significant advancement in the study of this disorder. « Farber disease (Lipogranulomatosis) is a rare, invariably fatal, inherited metabolic disorder first described by Sidney Farber in 1957 (Farber et al, 1957). Farber disease is inherited in an autosomal recessive fashion and is caused by mutations in the lysosomal acid ceramidase (ASAH1) gene. Therefore, Farber dis...
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Lipogranulomatosis or Farber's disease in a rare autosomal recessive disorder characterized by swollen, tender joints, periarticular and subcutaneous nodules, horsncss and progressive aphonia. Hepatosplcnomcgaly and C.N.S. involvements arc also reported in certain patients. The disorder is caused by a deficiency of acid ceramidase which may be best diagnosed by missing ceramidasc activity at a...
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ژورنال
عنوان ژورنال: EMBO Molecular Medicine
سال: 2013
ISSN: 1757-4676,1757-4684
DOI: 10.1002/emmm.201302781