Associated Papers
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.
Papi A et al.
Molecular Genetics & Genomic Medicine, 2023
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
Structural and mechanistic themes in glycoconjugate biosynthesis at membrane interfaces.
Allen KN et al.
Current Opinion in Structural Biology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
Structural basis for dolichylphosphate mannose biosynthesis.
Gandini R et al.
Nature Communications, 2017
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
Bursle C et al.
Jimd Reports, 2017
Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis.
Ardiccioni C et al.
Nature Communications, 2016
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
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
García-Silva MT et al.
Journal of Inherited Metabolic Disease, 2004
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