The Swedish COG6‐CDG experience and a comprehensive literature review

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 microcepha...

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Detalles Bibliográficos
Autores principales: Xia, Zhi‐Jie, Ng, Bobby G., Jennions, Elizabeth, Blomqvist, Maria, Sandqvist Wiklund, Anneli, Hedberg‐Oldfors, Carola, Gonzalez, Carlos Rodriguez, Freeze, Hudson H., Ygberg, Sofia, Eklund, Erik A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830022/
https://www.ncbi.nlm.nih.gov/pubmed/36636598
http://dx.doi.org/10.1002/jmd2.12338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830022/
https://www.ncbi.nlm.nih.gov/pubmed/36636598
http://dx.doi.org/10.1002/jmd2.12338

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