Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Johana M. Guevara-Morales"'
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:
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