Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. Acid sphingomyelinase deficiency is characterized by a spectrum of disease and is broadly divided into three types (ASMD type A, AS...

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Bibliografski detalji

Glavni autori:	Maria Judit Molnar, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2023-06-01
Serija:	Frontiers in Genetics
Teme:	ASMD acid sphingomyelinase deficiency type A/B intermediate-type acid sphingomyelinase deficiency Niemann-Pick disease type A/B SMPD1
Online pristup:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1158108/full
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