Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Diana Sánchez-Peñarete"'
Autor:
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha
Externí odkaz:
https://doaj.org/article/dea8e376910644618a67679fbc33812e
Patterns of chromosome abnormalities in a sample of Colombian patients with chronic myeloid leukemia
Autor:
Azucena Largo-Peralta, Milena Rondón-Lagos, Diana Sánchez-Peñarete, Katherin Cordón, Cladelis Rubio, Maribel Forero-Castro
Publikováno v:
Universitas Scientiarum, Vol 28, Iss 3, Pp 336-359 (2023)
Chronic Myeloid Leukemia (CML) is characterized by the presence of the Philadelphia (Ph) chromosome, resulting from a translocation between chromosomes 9 and 22 that gives rise to the BCR-ABL1 fusion gene. The Ph chromosome is present in 95 % of CML
Externí odkaz:
https://doaj.org/article/100f6cf6945349fa831c2bd97348637e
Autor:
Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2023)
Abstract Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation. Case report: 1
Externí odkaz:
https://doaj.org/article/4d5c225c37a641e4878f698dc7786c8f