The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series

Background: Lysosomal storage diseases (LSD) are inherited diseases caused by mutations affecting genes encoding the function of lysosomal enzymes. Acid sphingomyelinase deficiency (ASMD) is an ultra-rare, progressive, and often fatal LSD with an estimated prevalence of 1-in-50,000–250,000 individua...

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Main Authors: Jordi Costa i Colomer, Marta Garcia-Moyano, Luis Maiz, Santiago Perez-Tarazona, Marta Ruiz de Valbuena, Leticia Ceberio, Patricia Correcher, Natalia Juliá-Palacios, Montse Morales, Gema Pérez-Yagüe, Jesús Villarrubia, Raquel Pérez-Rojo
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Respiratory Medicine Case Reports
Subjects:
Lysosomal storage diseases
Acid sphingomyelinase deficiency
Interstitial lung disease
Pulmonary involvement
Multidisciplinary approach
Diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007125000383
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