Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mariana A, Loos"'
Autor:
Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100733- (2021)
Objective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of
Externí odkaz:
https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6
Autor:
Lía Mayorga, Juan A. Cueto, Adriana P. Correa, María J. Guillamondegui, Mariana A. Loos, Verónica H. Araoz, Sergio R. Laurito, María Roqué
Publikováno v:
Mitochondrial DNA. Part B. Resources, Vol 4, Iss 1, Pp 530-533 (2019)
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS. Mutations in MT-ATP6 are t
Externí odkaz:
https://doaj.org/article/cf0e308c49ff4f24ad07cab092edaec5
Autor:
Gabriel M, Veneruzzo, Mariana A, Loos, Marisa, Armeno, Cristina N, Alonso, Roberto H, Caraballo
Publikováno v:
Archivos argentinos de pediatria.
Glucose transporter type 1 deficiency with a typical onset is a genetic disorder associated with the SLC2A1 gene. Usually appears during the first years of life with severe developmental delay, drugresistant epilepsy, and movement disorders. Diagnosi