Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Abraham Merino-López"'
Autor:
Francisco Javier Cotrina-Vinagre, Francisco Martínez-Azorín, María Teresa García-Silva, Abraham Merino-López, Marcello Bellusci, Silvia Chumilla-Calzada, María Elena Rodríguez-García
Publikováno v:
Neuromuscular Disorders. 31:773-782
We report the case of a 16-year-old Spanish boy with cerebellar and spinal muscular atrophy, spasticity, psychomotor retardation, nystagmus, ophthalmoparesis, epilepsy, and mitochondrial respiratory chain (MRC) deficiency. Whole exome sequencing (WES
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e11a72960db13d5513814b5e2af313
https://doi.org/10.1016/j.nmd.2021.05.008
https://doi.org/10.1016/j.nmd.2021.05.008
Autor:
Elena Martín-Hernández, Enrique Medina-Benítez, Cristina Durán-Aparicio, María Elena Rodríguez-García, Francisco Martínez-Azorín, Abraham Merino-López, Francisco Javier Cotrina-Vinagre
Publikováno v:
Molecular Genetics and Metabolism. 133:201-210
We report the clinical, biochemical and genetic findings from a Spanish boy of Caucasian origin who presented with fever-dependent RALF (recurrent acute liver failure) and osteogenesis imperfecta (OI). Whole-exome sequencing (WES) uncovered two compo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2288241d2338833a24e9dd269b5a3507
https://doi.org/10.1016/j.ymgme.2021.02.007
https://doi.org/10.1016/j.ymgme.2021.02.007