Gaucher Disease
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Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Acid sphingomyelinase deficiency (ASMD), commonly called Niemann-Pick A/B disease, is an autosomal recessively inherited lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase (ASM)… Read more
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The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker
This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Abstract In this prospective study, samples from 14,830 individuals… Read more
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Importance of including ASMD diagnostics in suspected Gaucher patients
Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to the toxic accumulation of sphingomyelin. “Recent… Read more