The Swedish COG6‐CDG experience and a comprehensive literature review

Abstract Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive m...

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Podrobná bibliografie

Hlavní autoři:	Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2023-01-01
Edice:	JIMD Reports
Témata:	Brefeldin A COG6 congenital disorders of enamel hypoplasia glycosylation
On-line přístup:	https://doi.org/10.1002/jmd2.12338
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