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“Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study

BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant’s ability to metabolise cholesterol. Developments in treatment, including Enzyme Replacement Therapy, have proven successful, with...

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Detalles Bibliográficos
Autores principales: Hassall, S., Smith, D. M., Rust, S., Jones, S. A., Wittkowski, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097427/
https://www.ncbi.nlm.nih.gov/pubmed/35550173
http://dx.doi.org/10.1186/s13023-022-02335-4