Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ana Luiza Villa a Coelho"'
Autor:
Carlos E. Speck-Martins, Ana Luiza Villa a Coelho, Nilo Sakai, Kikue Terada Abe, Daniel R. Carvalho, Isabela M. P. O. Rizzo
Publikováno v:
Clinical Case Reports
Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66af23a6e1f956d57c178842ab082b1f
http://europepmc.org/articles/PMC6028370
http://europepmc.org/articles/PMC6028370
Autor:
Carlos E. Speck-Martins, Luciano Farage, Daniel R. Carvalho, Anna L. Soares, Christiana Brenner, Isabela M. P. O. Rizzo, Ana Luiza Villa a Coelho, Nilza do Carmo Fontes, Jaime M. Brum, Walquiria Domingues de Mello, Mônica M. M. Navarro
Publikováno v:
Pediatrics & Therapeutics.
Introduction: Congenital Disorders of Glycosylation are a group of genetic disorders due to abnormal glycosylation of glycoproteins and glycolipids. Based on isoelectric focusing of plasma transferrin results, CDG are classified in two groups: CDG-I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8db42d498a2ad5337b5bcb0aca6dff99
https://doi.org/10.4172/2161-0665.s3-001
https://doi.org/10.4172/2161-0665.s3-001