A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological abnormalities. Among others, dolichol‐phosphate‐mannose (D...

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Detalles Bibliográficos
Autores principales: van Tol, Walinka, Ashikov, Angel, Korsch, Eckhard, Abu Bakar, Nurulamin, Willemsen, Michèl A., Thiel, Christian, Lefeber, Dirk J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850978/
https://www.ncbi.nlm.nih.gov/pubmed/31741824
http://dx.doi.org/10.1002/jmd2.12060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850978/
https://www.ncbi.nlm.nih.gov/pubmed/31741824
http://dx.doi.org/10.1002/jmd2.12060

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