Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Lina Johanna Moreno Giraldo"'
Publikováno v:
Journal of Genetic Engineering and Biotechnology, Vol 22, Iss 1, Pp 100350- (2024)
Background: Genome association studies have shown that gene-gene interactions or epistasis play a crucial role in identifying the etiology, prognosis, and treatment response of many complex diseases beyond their main effects. Skeletal dysplasias are
Externí odkaz:
https://doaj.org/article/2b21df3d2bc140609b13229e9da38d88
Autor:
Ingara Cristina James, Monica Lizet Perez Sanchez, José Fernando Gómez Urrego, Lina Johanna Moreno Giraldo
Publikováno v:
Interdisciplinary Journal of Epidemiology and Public Health, Vol 4, Iss 2 (2023)
Antecedentes: La Isotretinoína es un análogo de vitamina A aprobado para el tratamiento de acné nodular severo y acné resistente a tratamientos de primera línea. Este tratamiento contrarresta los factores fisiopatológicos principales generadore
Externí odkaz:
https://doaj.org/article/939a8daf71804f018a6139aa44a5f0bf
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:
Interdisciplinary Journal of Epidemiology and Public Health, Vol 4, Iss 1 (2021)
I Background: Intellectual disability is part of the neurodevelopmental disorders, affecting 1-3 % of the population. The etiology is multifactorial, being genetic factors an important aspect in the disturbance of adaptative and intellectual skills
Externí odkaz:
https://doaj.org/article/00b696fa0c0a4fe99a8a85ee1bc8e4fe
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
Reclasificación de variante de significancia clínica incierta en un caso de MPS tipo IV-A no clásica
Publikováno v:
Revista Pediátrica de Panamá. :25-30
Introducción: La mucopolisacaridosis tipo IV - A (MPS IV-A, Síndrome de Morquio tipo A) es un trastorno hereditario autosómico recesivo y una de las enfermedades lisosómicas comunes, causada por el déficit en la actividad de la hidrolasa lisosó
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5994d6c351db2ba5ea1b355ba645bae
https://doi.org/10.37980/im.journal.rspp.20231942
https://doi.org/10.37980/im.journal.rspp.20231942
Autor:
Lina Johanna Moreno-Giraldo, José Luis Estela-Zape, Daniela Arturo-Terranova, José María Satizábal-Soto
Publikováno v:
Revista de la Asociación Colombiana de Ciencias Biológicas. :10-17
Introducción: La enfermedad por almacenamiento del glucógeno tipo III (GSDIII, Glycogen storage disease type III) o Enfermedad de Cori Forbes es un trastorno del proceso de glucogenólisis ocasionado por variantes del gen AGL que codifica la enzima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ae923a8f4709e1727aa7999c32ad091
https://doi.org/10.47499/revistaaccb.v1i34.252
https://doi.org/10.47499/revistaaccb.v1i34.252
Publikováno v:
Piel. 36:568-570
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d427d8edfc6ac66a7b68a4c5840fc076
https://doi.org/10.1016/j.piel.2020.10.020
https://doi.org/10.1016/j.piel.2020.10.020