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

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

Abstract 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‐m...

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Bibliographic Details
Main Authors: Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:JIMD Reports
Subjects:
congenital disorders of glycosylation
dolichol‐phosphate‐mannose
dystroglycanopathy
MPDU1‐CDG
Online Access:https://doi.org/10.1002/jmd2.12060

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