Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Alexander Rodriguez-López"'
Autor:
Ninna Pulido, Johana M. Guevara-Morales, Alexander Rodriguez-López, Álvaro Pulido, Jhon Díaz, Ru Angelie Edrada-Ebel, Olga Y. Echeverri-Peña
Publikováno v:
Metabolites, Vol 11, Iss 12, p 891 (2021)
The utility of low-resolution 1H-NMR analysis for the identification of biomarkers provided evidence for rapid biochemical diagnoses of organic acidemia and aminoacidopathy. 1H-NMR, with a sensitivity expected for a field strength of 400 MHz at 64 sc
Externí odkaz:
https://doaj.org/article/fa03da596de54c2b90445fbe7b852456
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103612- (2024)
Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral problems, and
Externí odkaz:
https://doaj.org/article/33207933411d47ff81be8b96c63277ca
Akademický článek
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Autor:
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz
Publikováno v:
Heliyon, Vol 10, Iss 12, Pp e32555- (2024)
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-
Externí odkaz:
https://doaj.org/article/c416a701f4074f4abb9006fd40dbe25c
Autor:
Carlos J. Alméciga-Díaz, Jacobo Cepeda Del Castillo, Edwin Alexander Rodriguez-López, Juan Camilo Losada Díaz
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 1, p 232 (2019)
International Journal of Molecular Sciences, Vol 21, Iss 1, p 232 (2019)
The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism of glycosaminoglycans. Most of the mutations affecting these enzymes may lead to changes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10092ec2be3252b219537120db8a3115
https://pubmed.ncbi.nlm.nih.gov/31905715
https://pubmed.ncbi.nlm.nih.gov/31905715
Autor:
Laura Milena Betrán, Angela Johana Espejo Mojica, Dennis Diaz, Angela Mosquera, Luis A. Barrera, Carlos Javier Alméciga Díaz, Francy Liliana Hernández, Edwin Alexander Rodriguez-López
Publikováno v:
Universitas Scientiarum, Vol 21, Iss 3, Pp 195-217 (2016)
β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded by HEXA and HEXB genes, respectively. Mutations in these genes lead to Tay Sachs or Sandh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42950b2572b28c6ea45fcb6e01a6c3f1
http://revistas.javeriana.edu.co/index.php/scientarium/article/view/15736
http://revistas.javeriana.edu.co/index.php/scientarium/article/view/15736
Autor:
Angie Marcela Calvo Barbosa, Stefany Casallas Cortes, Ninna Pulido, Martha Yaneth Parra, Alexander Rodríguez-López, Johana Guevara-Morales, Olga Yaneth Echeverri-Peña
Publikováno v:
Heliyon, Vol 8, Iss 9, Pp e10432- (2022)
Introduction: Although breast milk is the ideal food source for newborns during the first six months of life, a high percentage of children receive infant formulas. There is evidence that specific diet habits may influence individual metabolic profil
Externí odkaz:
https://doaj.org/article/da837eb8b9e6403493ba25725ab2393e
Publikováno v:
Frontiers in Psychology, Vol 12 (2021)
Organizational citizenship behaviors (OCBs) are an important aspect of job performance as they enhance the effectiveness of organizations. Research has shown that personality is a moderate predictor of job performance. This study, involving a sample
Externí odkaz:
https://doaj.org/article/b0980e48130447558ef4c05357965507
Autor:
Olga Y. Echeverri-Peña, Diego A. Salazar-Barreto, Alexander Rodríguez-Lopez, Janneth González, Carlos J. Alméciga-Díaz, Cristian H. Verano-Guevara, Luis A. Barrera
Publikováno v:
Heliyon, Vol 7, Iss 7, Pp e07671- (2021)
Metachromatic leukodystrophy (MLD) is a human neurodegenerative disorder characterized by progressive damage on the myelin band in the nervous system. MLD is caused by the impaired function of the lysosomal enzyme Arylsulphatase A (ARSA). The physiop
Externí odkaz:
https://doaj.org/article/ffe2a6364f784b52be6730cc749b2c56
Autor:
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory, Juan J. Marugan, Wei Zheng
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-15 (2018)
Abstract Background Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside,
Externí odkaz:
https://doaj.org/article/bca708979a86458480f946c7d0be405e