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