Associated Papers
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Pavlů-Pereira H et al.
Journal of Inherited Metabolic Disease, 2005
[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].
Elleder M et al.
Casopis Lekaru Ceskych, 2001
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