Niemann-Pick Disease: Seven Questions about it
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neur...
| Published in: | Вопросы современной педиатрии |
|---|---|
| Main Authors: | , |
| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2023-12-01
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| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3357 |