Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

Congenital disorders of glycosylation (CDG) represent a wide range of >140 inherited metabolic diseases, continually expanding not only with regards to the number of newly identified causative genes, but also the heterogeneity of the clinical and molecular presentations within each subtype. The d...

Descripción completa

Detalles Bibliográficos
Autores principales: Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Concise Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383996/
https://www.ncbi.nlm.nih.gov/pubmed/32216104
http://dx.doi.org/10.1002/jimd.12237

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383996/
https://www.ncbi.nlm.nih.gov/pubmed/32216104
http://dx.doi.org/10.1002/jimd.12237

Ejemplares similares