A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysoso...

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Bibliographic Details
Main Authors: María Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego A. Suarez, Angela J. Espejo-Mojica, Johana M. Guevara, Olga Yaneth Echeverri, Daniela Solano-Galarza, Alfredo Uribe-Ardila, Carlos J. Alméciga-Díaz
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Heliyon
Subjects:
Genetics
Metabolite
Pharmaceutical science
Biochemistry
Epidemiology
Clinical genetics
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844020304801

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http://www.sciencedirect.com/science/article/pii/S2405844020304801

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