Novel Mutations in the SMPD1 Gene in Jordanian Children with Acid Sphingomyelinase Deficiency (Niemann-Pick Types A and B).
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DOI: 10.1016/j.gene.2020.144683
Abstract: Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal… read more here.
Keywords: mutations smpd1; smpd1 gene; gene; acid sphingomyelinase ... See more keywords
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Medical Journal of the Islamic Republic of Iran"
DOI: 10.34171/mjiri.33.126
Abstract: Background: Niemann-Pick diseases are rare inherited lipid storage disorders caused by mutations in the SMPD1, NPC1, and NPC2 genes. The aim of this study was to assess the mutation spectrum of a cohort of Iranian… read more here.
Keywords: mutation; smpd1 gene; pick diseases; niemann pick ... See more keywords