2024
DOI: 10.21518/ms2024-240
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Course of Niemann – Pick disease type A/B in the context of hematopoietic stem cell transplantation

I. M. Melnikova,
A. A. Pavlikov,
E. K. Borisova

Abstract: Niemann – Pick disease type A/B (NPAB) is a rare severe inherited disease from the group of accumulation diseases with a defect in the acid sphingomyelinase gene (Niemann-Pick disease types B, A/B) (ASMD). Symptoms of damage to the nervous system and internal organs manifest in infancy, leading to disability, fatalities in childhood. NPAB is so far incurable. Optimal management of the disease requires a multidisciplinary team of physicians, specialists. The basis of therapy is the elimination of existing/formi… Show more

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