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Text
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URL Address
<a href="http://doi.org/10.1016/j.ejmg.2017.07.014" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ejmg.2017.07.014</a>
Pages
541–547
Issue
10
Volume
60
Dublin Core
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Title
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Exome sequence identified a c.320A \textgreater G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Publisher
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European journal of medical genetics
Date
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2017
2017-10
Subject
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*Mutation; *X Chromosome Inactivation; ALG13; CDG Is; Child; Congenital disorder of glycosylation; Congenital Disorders of Glycosylation/diagnosis/*genetics; Exome; Female; Glycosylation; Heterozygote; Humans; Infant; Infantile/diagnosis/*genetics; Mental Retardation; Missense; N-Acetylglucosaminyltransferases/*genetics; Post-Translational; Preschool; Protein Processing; Spasms; Syndrome; Transferrin/metabolism; X-inactivation; X-Linked/diagnosis/*genetics
Creator
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Hamici Sana; Bastaki Fatma; Khalifa Mohamed
Description
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Congenital Disorders of Glycosylation (CDG) are new and rapidly expanding neurometabolic disorders with multisystem involvements, broad phenotypic manifestations, and variable severity. The majority results from a defect of one of the steps involved with protein or lipid N-glycosylation pathway. Almost all are inherited in autosomal recessive patterns with a few exceptions such as the
Identifier
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<a href="http://doi.org/10.1016/j.ejmg.2017.07.014" target="_blank" rel="noreferrer noopener">10.1016/j.ejmg.2017.07.014</a>
Rights
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Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
*Mutation
*X Chromosome Inactivation
2017
ALG13
Bastaki Fatma
CDG Is
Child
Congenital disorder of glycosylation
Congenital Disorders of Glycosylation/diagnosis/*genetics
European journal of medical genetics
Exome
Female
Glycosylation
Hamici Sana
Heterozygote
Humans
Infant
Infantile/diagnosis/*genetics
Khalifa Mohamed
Mental Retardation
Missense
N-Acetylglucosaminyltransferases/*genetics
Post-Translational
Preschool
Protein Processing
Spasms
Syndrome
Transferrin/metabolism
X-inactivation
X-Linked/diagnosis/*genetics