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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...

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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

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