The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series
ASMD patients presented with different target organ involvement, with lung involvement contributing significantly to patient morbi-mortality. ASMD diagnostic suspicion among pulmonologists treating ILD is thus crucial, as multidisciplinary monitoring of ILD as a feature of ASMD can ensure its correct management and follow-up.
Authors
- Luís Máiz
- Santiago Pérez‐Tarazona (ORCID: https://orcid.org/0000-0002-0341-5979)
- Marta Garcia-Moyano
- Natalia Juliá‐Palacios (ORCID: https://orcid.org/0000-0002-2560-3970)
- Leticia Ceberio
- Jesús Villarrubia (ORCID: https://orcid.org/0000-0003-4501-5938)
- Patricia Correcher Medina (ORCID: https://orcid.org/0000-0002-9704-9534)
- Marta Ruiz de Valbuena
- J. Colomer (ORCID: https://orcid.org/0000-0001-5530-2661)
- Raquel Pérez Rojo
- Monserrat Morales
- Gema Pérez-Yagüe
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Universidad de Alcalá (ES)
- Hospital Universitario La Paz (ES)
- Research Institute Hospital 12 de Octubre (ES)
- Hospital General De Segovia (ES)
- Hospital de Cruces (ES)
- Instituto de Investigación Sanitaria La Fe (ES)
Publication Details
- Journal
- Respiratory Medicine Case Reports
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.rmcr.2025.102202
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi España
- Instituto de Salud Carlos III
- European Regional Development Fund