Zobrazeno 1 - 3
of 3
pro vyhledávání: '"José María Satizabal Soto"'
Autor:
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 53-56 (2018)
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV. To enhance the knowledge of
Externí odkaz:
https://doaj.org/article/2f29f347e4fa4d149800f11cf79a9eed
Autor:
Julio César Montoya Villegas, Juliana Soto Girón, José María Satizabal Soto, Adalberto Sánchez Gómez, Felipe García Vallejo
Publikováno v:
Iatreia, Vol 23, Iss 4-S (2010)
Análisis previos en Síndrome de Down (SD) han identificado una región del cromosoma 21 conocida como Región Crítica del SD (DSCR) en donde se localizan algunos genes cuya expresión modularía las principales características clínicas de esta p
Externí odkaz:
https://doaj.org/article/dedbad214d1547bb974d434369ce7dbb
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
ABSTRACT Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies are among the earliest clinical manifestations. We realized a
Externí odkaz:
https://doaj.org/article/d1a09726faab45369dc68306a364c686