Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy

BACKGROUND: Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Historically management has been palliative or supportive care. Hematopoiet...

Descripción completa

Detalles Bibliográficos
Autores principales: Eichler, F., Sevin, Caroline, Barth, M., Pang, F., Howie, K., Walz, M., Wilds, A., Calcagni, C., Chanson, C., Campbell, L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531467/
https://www.ncbi.nlm.nih.gov/pubmed/36195888
http://dx.doi.org/10.1186/s13023-022-02518-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531467/
https://www.ncbi.nlm.nih.gov/pubmed/36195888
http://dx.doi.org/10.1186/s13023-022-02518-z

Ejemplares similares