Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

Author： Pavlů-Pereira H.   Asfaw B.   Poupčtová H.   Ledvinová J.   Sikora J.   Vanier M.   Sandhoff K.   Zeman J.   Novotná Z.   Chudoba D.   Elleder M.  

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.28, Iss.2, 2005-04, pp. : 203-227

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