Associated Papers
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.
Lausmann H et al.
Frontiers in Genetics, 2022
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2021
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
Bursle C et al.
Jimd Reports, 2017
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC et al.
Molecular Genetics and Metabolism, 2013
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Dancourt J et al.
Pediatric Research, 2006
Metabolic mimics: the disorders of N-linked glycosylation.
Patterson MC
Seminars in Pediatric Neurology, 2005
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cellular and Molecular Life Sciences : Cmls, 2001
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
Imbach T et al.
The Journal of Clinical Investigation, 2000
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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