Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ana González-Jaimes"'
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/16f9a7c36b8c4e668090bb6fa6040a84
Autor:
Carlos Alberto González-Domínguez, Moisés O. Fiesco-Roa, Samuel Gómez-Carmona, Anke Paula Ingrid Kleinert-Altamirano, Miao He, Earnest James Paul Daniel, Kimiyo M. Raymond, Melania Abreu-González, Sandra Manrique-Hernández, Ana González-Jaimes, Roberta Salinas-Marín, Carolina Molina-Garay, Karol Carrillo-Sánchez, Luis Leonardo Flores-Lagunes, Marco Jiménez-Olivares, Anallely Muñoz-Rivas, Mario E. Cruz-Muñoz, Matilde Ruíz-García, Hudson H. Freeze, Héctor M. Mora-Montes, Carmen Alaez-Verson, Iván Martínez-Duncker
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
This study reports on a Mexican mestizo patient with a multi-systemic syndrome including neurological involvement and a type I serum transferrin profile. Clinical exome sequencing revealed complex alleles in ALG1, the encoding gene for the chitobiosy
Externí odkaz:
https://doaj.org/article/31a570422e514fc1967b53252d47ed25
Autor:
Ana González-Jaimes, Anallely Muñoz-Rivas, Marco Jiménez-Olivares, Mario E Cruz-Muñoz, F. Olvera-Rodriguez, Carmen Alaez-Verson, Iván Martínez-Duncker, Héctor M. Mora-Montes, Carolina Molina-Garay, Roberta Salinas-Marín, M. Rodríguez-Morales, Karol Carrillo-Sánchez, K. Beutelspacher, Carlos Alberto González-Domínguez, Sandra Manrique-Hernández, Luis Leonardo Flores-Lagunes, C.E. Villarroel
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100781-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern. Diagnosis of PMM2-CDG was obtained by clinical exome sequencing (CES) that revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bba0f6ed9bc23e287e5b18385164c1
https://doi.org/10.1016/j.ymgmr.2021.100781
https://doi.org/10.1016/j.ymgmr.2021.100781