Molecular analysis of acid ceramidase de
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Julia Bรคr; Thomas Linke; Klaus Ferlinz; Ulrich Neumann; Edward H. Schuchman; Kon
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Article
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2001
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John Wiley and Sons
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English
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Farber disease is a rare, autosomal recessively inherited sphingolipid storage disorder due to the deficient activity of lysosomal acid ceramidase, leading to the accumulation of ceramide in cells and tissues. Here we report the identification of six novel mutations in the acid ceramidase gene causi