Article
[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].
Casopis lekaru ceskych - 6 Dec 2001
Elleder M, Poupĕtová H, Ledvinová J, Zeman J, Rosipal S, Kraus J
Abstract excerpt
BACKGROUND: We present a series of 25 patients (from 21 families) with deficiency of lysosomal sphingomyelinase (acid sphingomyelinase, ASM), diagnosed during the last 30 years. METHODS AND RESULTS: Diagnosis was established by finding specific sphingomyelin storage pattern in bone marrow histiocytes and in some bioptical and postmortem tissues (presence of sphingomyelin liquid crystals) and finally by proving...
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