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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Hlavní autoři:	Arlindo Guimas, Esmeralda Martins
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2026-09-01
Edice:	Molecular Genetics and Metabolism Reports
Témata:	ASMD Acid sphingomyelinase deficiency Asplenia Niemann-pick disease types A/B SMPD1 Olipudase alfa
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2214426926000522
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