Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Uribe‐Ardila, Alfredo"'
Autor:
Puentes-Tellez, María Alejandra, Lerma-Barbosa, Paula Andrea, Garzón-Jaramillo, Rafael Guillermo, Suarez, Diego A., Espejo-Mojica, Angela J., Guevara, Johana M., Echeverri, Olga Yaneth, Solano-Galarza, Daniela, Uribe-Ardila, Alfredo, Alméciga-Díaz, Carlos J.
Publikováno v:
In Heliyon March 2020 6(3)
Publikováno v:
Revista Med; Vol. 28 No. 2 (2020): july-december; 35-48
Revista Med; Vol. 28 Núm. 2 (2020): julio-diciembre; 35-48
Revista Med; Vol. 28 Núm. 2 (2020): julio-diciembre; 35-48
Gaucher disease (GD) is a lysosomal storage disorder characterized by a deficiency in the enzymatic activity of β-glucosidase (BGLU), resulting in the accumulation of glucosylceramide in cells. Its diagnosis is aimed at checking the enzyme in the af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2802::35d9ace6222a6481ccb340e232fada06
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/4857
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/4857
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2022, Vol. 63 Issue 5, p475-483, 9p
Akademický článek
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Autor:
Uribe Ardila, Alfredo
Publikováno v:
Revista Med; Vol. 25 No. 2 (2017): july-december; 7-21
Revista Med; Vol. 25 Núm. 2 (2017): julio-diciembre; 7-21
Revista Med; Vol. 25 Núm. 2 (2017): julio-diciembre; 7-21
Deficiency of Glucose-6 -Phosphate Dehydrogenase is an inherited disorder of X-linked metabolism, as the metabolic disease of the world’s largest frequency with more than 400 million affected individuals, is the most common cause of non-autoimmune
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2802::7f2458d36b5e413413b18c44eec5b8dc
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/3206
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/3206
Publikováno v:
Revista Med; Vol. 25 No. 1 (2017): january-june; 7-19
Revista Med; Vol. 25 Núm. 1 (2017): enero-junio; 7-19
Revista Med; Vol. 25 Núm. 1 (2017): enero-junio; 7-19
Krabbe disease is a disorder of autosomal recessive sphingolipid metabolism caused by deficiency β-galactosylceramidase (β-Galsil) (EC3.2.1.46), an enzymatic defect that causes a hurt neurodegenerative, muscular hypertonia and Spasticity, convulsio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2802::673382f117825fa9e3a26102ccae6e46
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/2875
https://revistas.unimilitar.edu.co/index.php/rmed/article/view/2875
Publikováno v:
Revista Med, Volume: 25, Issue: 1, Pages: 19-7, Published: JAN 2017
La Enfermedad de Krabbe (EK), es un desorden del metabolismo de esfingolípidos de herencia autosómica recesiva causada por la deficiencia de β-galactosilceramidasa (β-Galsil) (E.C. 3.2.1.46), defecto enzimático que causa un cuadro neurodegenerat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______618::72b3f4a2831e144af4882105549e4789
http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0121-52562017000100002&lng=en&tlng=en
http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0121-52562017000100002&lng=en&tlng=en
Autor:
Puentes-Tellez, Maria Alejandra, Lerma-Barbosa, Paula Andrea, Garzón-Jaramillo, Rafael Guillermo, Suarez, Diego, Espejo-Mojica, Angela J., Guevara, Johana M., Echeverri, Olga Yaneth, Solano-Galarzaa, Daniela, Uribe-Ardila, Alfredo, Alméciga-Díaz, Carlos Javier
Publikováno v:
In Molecular Genetics and Metabolism February 2021 132(2):S88-S88
Autor:
Suarez-Obando, Fernando, Panesso-Suescun, Ernesto, Gamboa-Rendón, John, Uribe-Ardila, Alfredo
Publikováno v:
In Molecular Genetics and Metabolism February 2018 123(2):S137-S137