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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2023-06-01
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| Col·lecció: | Frontiers in Genetics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1158108/full |
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