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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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Detalles Bibliográficos
Autores principales:	Molnar, Maria Judit, Szlepak, Tamas, Csürke, Ildikó, Loth, Szendile, Káposzta, Rita, Erdős, Melinda, Dezsőfi, Antal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280011/ https://www.ncbi.nlm.nih.gov/pubmed/37347058 http://dx.doi.org/10.3389/fgene.2023.1158108

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