Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jose Maria Satizábal"'
Autor:
Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent compromising of tissues and organ malfunction. Although incurable, most types
Externí odkaz:
https://doaj.org/article/39510fa3b7144e4abecda9ad2130fbf7
Autor:
Barrios-Navas, Alejandro, Nguyen, Thanh Long, Gallo, Juan Esteban, Mariño-Ramírez, Leonardo, Soto, José María Satizabal, Sánchez, Adalberto, Jordan, I. King, Valderrama-Aguirre, Augusto
Publikováno v:
In Infection, Genetics and Evolution November 2024 125
Autor:
Juan Politei, Gloria Liliana Porras‐Hurtado, Norberto Guelbert, Alejandro Fainboim, Dafne Dain Gandelman Horovitz, José María Satizábal
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 104-113 (2021)
Abstract Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by mutations in the GALNS gene, which leads to deficient activity of N‐acetylglucosamine‐6‐sulfate sulfatase. MPS IVA patients usually
Externí odkaz:
https://doaj.org/article/f0fb260f41ed4795bd194a39e13c55a0
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Mucopolysaccharidoses are lysosomal storage diseases characterized by the excessive accumulation of glycosaminoglycan sulfate in organs and tissues. To determine the population allelic frequency of the MPS complex variants in a population wi
Externí odkaz:
https://doaj.org/article/62cc1ed7053d4561895e22f5b0e6cc91
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Introduction Gaucher's disease (GD) is an autosomal-recessive lysosomal storage disorder that results from hereditary deficiency of the acid glucocerebrosidase enzyme, encoded by the GBA gene necessary for the degradation of glucosylceramide
Externí odkaz:
https://doaj.org/article/9c6fcd621428422f890c154b24d93de4
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
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