Olga Y. Pena-Echeverri
Bogota, DC, Colombia
Last Updated: 09/26/2026
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Found 11 publications
Purifying selection of the lysosomal enzymes arylsulfatase A and beta-galactocerebrosidase and their evolutionary impact on myelin integrity.
Journal: Journal of lipid research
Published: January 14, 2025
From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.
Journal: International journal of molecular sciences
Published: June 09, 2023
The landscape of CRISPR/Cas9 for inborn errors of metabolism.
Journal: Molecular genetics and metabolism
Published: June 25, 2022
Sphingolipids and their role in health and disease in the central nervous system.
Journal: Advances in biological regulation
Published: April 27, 2022
Metabolic impact of infant formulas in young infants. An outlook from the urine metabolome.
Journal: Heliyon
Published: December 12, 2021
Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach.
Journal: Heliyon
Published: February 10, 2021
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
Journal: International journal of molecular sciences
Published: July 06, 2020
Implementation of an intraleukocitary cystine quantification method for diagnosis of cystinosis.
Journal: Nefrologia
Published: October 29, 2018
The importance of semiology and biochemistry in the diagnostic management of a peroxisomal biogenesis disorder
Journal: Revista de neurologia
Published: October 06, 2018
Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.
Journal: Journal of microbiology (Seoul, Korea)
Published: August 08, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026