| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3807119 | Medicine - Programa de Formación Médica Continuada Acreditado | 2012 | 9 Pages |
Abstract
Sphingomyelin-cholesterol lipidosis is disorder cause by deficiency of the enzyme that metabolize sphingomyelin. The classic clinical manifestations are: neurologic symptoms and organomegaly. Diagnosis is made by is confirmed by fibroblast cell culture enzyme activity analysis. Treatment: enzyme replacement if possible.
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Authors
M.T. Bergoglio, A. Jover Fernández, S. Veses MartÃn, E. Solá Izquierdo,