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...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
Concise Communications
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7383996/
https://ncbi.nlm.nih.gov/pubmed/32216104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12237
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