Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study
This first study carried out in Spain shows an estimated prevalence of patients of 0.7 per 1,000,000 inhabitants: 1.2 per 1,000,000 inhabitants in the paediatric population and 0.6 per 1,000,000 inhabitants in the adult population.
Authors
- Inmaculada Tornero Quiñones
- Leticia Ceberio
- Jesús Villarrubia (ORCID: https://orcid.org/0000-0003-4501-5938)
- Isidro Vitoria (ORCID: https://orcid.org/0000-0003-4450-1213)
- Marcello Bellusci (ORCID: https://orcid.org/0000-0003-0498-9787)
- L. de la Peña
- Monserrat Morales
- M O'Callaghan
- M Ruiz de Valbuena
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Hospital Universitario Insular de Gran Canaria (ES)
- Hospital Universitario La Paz (ES)
- Hospital General Universitario Gregorio Marañón (ES)
- Research Institute Hospital 12 de Octubre (ES)
- Hospital Universitario Virgen Macarena (ES)
- Hospital General Nuestra Señora del Prado (ES)
- Hospital Universitario de Gran Canaria Doctor Negrín (ES)
- Complejo Hospitalario de Salamanca (ES)
- Hospital Universitario Fundación Alcorcón (ES)
- Hospital Universitario 12 De Octubre (ES)
- Hospital Doctor José Molina Orosa (ES)
- Hospital de Manises (ES)
- Hospital de Cruces (ES)
- Hospital Universitario Virgen del Rocío (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
- Hospital Universitario Ramón y Cajal (ES)
- Complejo Hospitalario Universitario de Ferrol (ES)
Publication Details
- Journal
- Revista Clínica Española (English Edition)
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1016/j.rceng.2024.11.007
- Primary Topic
- Sphingolipid Metabolism and Signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.00