Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study

Eur J Med Genet. 2024 Jun 7:104954. DOI: 10.1016/j.ejmg.2024.104954 Online ahead of print.

Eugen Mengel , Maurizio Scarpa , Nathalie Guffon , Simon A Jones , Vishal Goriya , Jérôme Msihid , Valerie Dyevre , Carly Rodriguez , Maja Gasparic , Lubomyra Nalysnyk , Fernando Laredo , Ruth Pulikottil-Jacob 

https://pubmed.ncbi.nlm.nih.gov/38852770/