A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes a phosph...

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Detalles Bibliográficos
Autores principales: Lebredonchel, E., Riquet, A., Neut, D., Broly, F., Matthijs, G., Klein, A., Foulquier, F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552460/
https://www.ncbi.nlm.nih.gov/pubmed/36221102
http://dx.doi.org/10.1186/s13052-022-01355-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552460/
https://www.ncbi.nlm.nih.gov/pubmed/36221102
http://dx.doi.org/10.1186/s13052-022-01355-x

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