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Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory

Lysosomal storage disorders (LSDs) are a group of rare and genetic diseases produced by mutations in genes coding for proteins involved in lysosome functioning. Protein defect leads to the lysosomal accumulation of undegraded macromolecules including glycoproteins, glycosaminoglycans, lipids, and gl...

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Detalles Bibliográficos
Autores principales: Leal, Andrés Felipe, Nieto, Wendy G., Candelo, Estephania, Pachajoa, Harry, Alméciga-Díaz, Carlos Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092717/
https://www.ncbi.nlm.nih.gov/pubmed/35645695