article_metadata: Maria Judit Molnar Tamas Szlepak Ildikó Csürke Szendile Loth Rita Káposzta Melinda Erdős Antal Dezsőfi
article_metadata: 10.3389/fgene.2023.1158108
article_metadata: Front Genet
article_metadata: 2023 Jun 6;14:1158108.
article_metadata: asmd niemann-pick disease type a/b smpd1 acid sphingomyelinase deficiency type a/b intermediate-type acid sphingomyelinase deficiency
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37347058/
article_metadata: Case Reports
article_metadata: PMC10280011
article_metadata: 37347058
article_metadata: Case report: The spectrum of SMPD1 pathogenic variants in Hungary
article_metadata: 2023