Expanding the molecular and clinical phenotypes of FUT8-CDG

Pathogenic variants in the Golgi localised alpha 1,6 fucosyltransferase, FUT8, cause a rare inherited metabolic disorder known as FUT8-CDG. To date, only three affected individuals have been reported presenting with a constellation of symptoms including intrauterine growth restriction, severe delays...

詳細記述

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書誌詳細
出版年:J Inherit Metab Dis
主要な著者: Ng, Bobby G., Dastsooz, Hassan, Silawi, Mohammad, Habibzadeh, Parham, Jahan, Shima B., Fard, Mohammad A. F., Halliday, Benjamin J., Raymond, Kimiyo, Ruzhnikov, Maura R. Z., Tabatabaei, Zahra, Taghipour-Sheshdeh, Afsaneh, Brimble, Elise, Robertson, Stephen P., Faghihi, Mohammad A., Freeze, Hudson H.
フォーマット: Artigo
言語:Inglês
出版事項: 2020
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7359201/
https://ncbi.nlm.nih.gov/pubmed/32049367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12221
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