The Road Ahead for ASMD: Innovations in Diagnosis and Therapy

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added blog Health

2025-01-20 09:24:07 -

Acid sphingomyelinase deficiency (ASMD) is a rare genetic lysosomal storage disorder caused by mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene resulting in a deficiency of acid sphingomyelinase enzyme. The condition is characterized by accumulation of sphingomyelin in various tissues and organs of the body. The signs and symptoms of ASMD include liver and spleen enlargement,...

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