Prevalence of Cancer in Acid Sphingomyelinase Deficiency

Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence of cancer in ASMD patients. We retrospectively reviewed the medical records of the...

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Auteurs principaux: Wladimir Mauhin, Thierry Levade, Marie T. Vanier, Roseline Froissart, Olivier Lidove
Format: article
Langue:EN
Publié: MDPI AG 2021
Sujets:
R
Accès en ligne:https://doaj.org/article/21693f4c34d04450aca938356bb75e80
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