Lee, C.Y., Krimbou, L. and Vincent, J. (2003) L’hétérozygotie composée au niveau du gène de la sphingomyéline phosphodiestérase-1 (SMPD1) est associée à un faible taux de cholestérol HDL. Human Genetics, 112, 552-562.
https://doi.org/10.1007/s00439-002-0893-1

has been cited by the following article:

• TITLE: Niemann-Pick A/B Disease in a 13-Year-Old Child and Review of the Literature

  AUTHORS: Issam Taha, Ilham Tadmori, Moustapha Hida

  KEYWORDS: Nieman Pick, Splenomegaly, Hepatomegaly, Enzymatic Test

  JOURNAL NAME: Open Journal of Pediatrics, Vol.13 No.6, November 16, 2023

  ABSTRACT: Niemann-Pick disease (NPD) refers to a group of patients who have varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features, including hepatosplenomegaly, insufficiency pulmonary and/or central nervous system (CNS). Thanks to the pioneering work of Roscoe Brady and colleagues, we now know that there are two distinct metabolic abnormalities that explain NPD. The first is due to the deficient activity of the acid sphingomyelinase enzyme (ASM; NPD “types A and B”), and the second is due to defective functioning in the transport of cholesterol (NPD “type C”). We report the case of a 13-year-old adolescent diagnosed with Niemann-Pick A/B disease.