default author photo

Marie T. VANIER

Hospices Civils de Lyon

3 Quai des Célestins

Lyon, 69002

France

SCHOLARLY PAPERS

1

DOWNLOADS

115

TOTAL CITATIONS

0

Scholarly Papers (1)

1.

Acid Sphingomyelinase Deficiency: Laboratory Diagnosis, Genetic and Epidemiologic Aspects of a 50-Year French Cohort

Number of pages: 37 Posted: 08 Jan 2025
Hospices Civils de Lyon, Hospices Civils de Lyon, Hospices Civils de Lyon, University of Toulouse 3, Paul Sabatier University and Hospices Civils de Lyon
Downloads 115 (617,542)

Abstract:

Loading...

Niemann-Pick disease, ASMD, SMPD1, Diagnosis, Epidemiology, Genetic testing, Lysosphingomyelin, Lysosphingomyelin-509, Palmitoylphosphocholineserine, biomarkers