Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case
Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingolipids in the cells. Olipudase alfa was registered as the dru...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
"Paediatrician" Publishers LLC
2025-02-01
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| Colección: | Вопросы современной педиатрии |
| Materias: | |
| Acceso en línea: | https://vsp.spr-journal.ru/jour/article/view/3684 |
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