Associated Papers
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.
Blümlein U et al.
Molecular Genetics and Metabolism Reports, 2022
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Pinto C et al.
International Journal of Molecular Sciences, 2021
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.
Chuang WL et al.
Molecular Genetics and Metabolism Reports, 2015
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
Wasserstein MP et al.
The Journal of Pediatrics, 2006
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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