[HTML][HTML] Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
M Wasserstein, C Dionisi-Vici, R Giugliani… - Molecular genetics and …, 2019 - Elsevier
Background Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease,
results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a
result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone
marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves.
Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral
disease, to less rapidly progressing chronic neurovisceral and visceral forms that are …
results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a
result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone
marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves.
Clinical manifestations range from rapidly progressive and fatal infantile neurovisceral
disease, to less rapidly progressing chronic neurovisceral and visceral forms that are …