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Search results for "Niemann-Pick disease"

Acid sphingomyelinase ( ASM ) deficient Niemann-Pick disease ( NPD ) is caused by SMPD1 gene mutations and subsequent acid sphingomyelinase deficiency. It is a rare autosomal recessive disorder, usual ...


Niemann-Pick disease type C ( NP-C ) is a rare neurovisceral disease characterized by progressive neurodegeneration and premature death.Data recorded at enrolment in an ongoing international NP-C regi ...


The FDA ( Food and Drug Administration ) has granted Breakthrough Therapy designation to Olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with non-ne ...