Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Johana M. Guevara"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Classical galactosemia is caused by the genetic deficiency of galactose-1-phosphate-urydyl-transferase resulting in clinical symptoms development during the first weeks of life including jaundice, hypotonia, lethargy, emesis, hepatomegaly, a
Externí odkaz:
https://doaj.org/article/7ee69fc5c98f4c349dd074413f4e4a2b
Autor:
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
Publikováno v:
Heliyon, Vol 6, Iss 3, Pp e03635- (2020)
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, trans
Externí odkaz:
https://doaj.org/article/dc87a9a89f9d4088ab59aedf9db5ece1
Publikováno v:
Engineering Reports, Vol 2, Iss 2, Pp n/a-n/a (2020)
Abstract Cell membrane is a lipid bilayer that allows the flow of ions through their ionic pumping proteins. The ionic flow can be stimulated with external stimuli to activate specific signaling pathways intracellularly. Although studies have applied
Externí odkaz:
https://doaj.org/article/4d7162ec6d7a4137b2df796c83d5933f
Autor:
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals,
Externí odkaz:
https://doaj.org/article/49daf7acd2fa45508c4d511cfb9b74ad
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
Autor:
Johana M. Guevara-Morales, Michael Frohbergh, Hector Castro-Abril, Juan J. Vaca-González, Luis A. Barrera, Diego A. Garzón-Alvarado, Edward Schuchman, Calogera Simonaro
Publikováno v:
Diagnostics, Vol 10, Iss 6, p 360 (2020)
Background: Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases caused by impaired function or absence of lysosomal enzymes involved in degradation of glycosaminoglycans. Clinically, MPS are skeletal dysplasias, characterized by c
Externí odkaz:
https://doaj.org/article/b67c576931df4aa09353d0086178c1d4
Autor:
Calogera M Simonaro, Shunji Tomatsu, Tracy Sikora, Francyne Kubaski, Michael Frohbergh, Johana M Guevara, Raymond Y Wang, Moin Vera, Jennifer L Kang, Lachlan J Smith, Edward H Schuchman, Mark E Haskins
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153136 (2016)
We previously demonstrated the therapeutic benefits of pentosan polysulfate (PPS) in a rat model of mucopolysaccharidosis (MPS) type VI. Reduction of inflammation, reduction of glycosaminoglycan (GAG) storage, and improvement in the skeletal phenotyp
Externí odkaz:
https://doaj.org/article/725fb3187f894bb2bfef54ff8ca61086