Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

BACKGROUND/AIMS: Leukodystrophies due to abnormal production of myelin cause extensive morbidity in early life; their genetic background is still largely unknown. We aimed at reaching a molecular diagnosis in Ashkenazi-Jewish patients who suffered from developmental regression at 6–13 months, leukod...

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Udgivet i:J Med Genet
Main Authors: Edvardson, Simon, Yi, Jae Kyo, Jalas, Chaim, Xu, Ruijuan, Webb, Bryn D, Snider, Justin, Fedick, Anastasia, Kleinman, Elisheva, Treff, Nathan R, Mao, Cungui, Elpeleg, Orly
Format: Artigo
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5068917/
https://ncbi.nlm.nih.gov/pubmed/26792856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103457
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