The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene. It can lead to death in early childhood in its most severe form. According to previous registries, the birth prevalenc...

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Principais autores:	Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Discover STM Publishing Ltd 2023-02-01
coleção:	Journal of Biochemical and Clinical Genetics
Assuntos:	acid sphingomyelinase deficiency lysosomal storage diseases enzyme replacement therapy niemann-pick disease acid sphingomyelinase enzyme
Acesso em linha:	https://www.jbcgenetics.com/?mno=302656906
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