From childhood to adulthood: A descriptive analysis of clinical features in patients with acid sphingomyelinase deficiency (ASMD)

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Authors: María Camprodón-Gómez, Ana Felipe‐Rucián, Lucy D. Dougherty De Miguel, Ana Gabriela Lungo Peccorini, Clara Carnicer-Cáceres, José Antonio Arranz, Àngel Valls Villalba, Meritxell Sariol, MireiaI Del Toro Riera
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Fields of Study & Subjects

Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
2
Pages
109353–109353
Publication date
1 February 2026
Language
EN