A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with multisystemic involvement. We report a 68-year-old asplenic man with late-onset ASMD and severe interstitial lung disease, chronic respiratory failure, and markedly reduced diffusion capacity. Treatment with olipudase...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2026-09-01
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| coleção: | Molecular Genetics and Metabolism Reports |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2214426926000522 |
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