Associated Papers
A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.
Kraoua L et al.
Molecular Genetics and Metabolism, 2026
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V et al.
Journal of Inherited Metabolic Disease, 2025
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F et al.
Cerebellum (london, England), 2021
Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.
Thirumal Kumar D et al.
Journal of Biomolecular Structure & Dynamics, 2021
Three families with mild PMM2-CDG and normal cognitive development.
Vals MA et al.
American Journal of Medical Genetics. Part A, 2017
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Schollen E et al.
Journal of Medical Genetics, 2004
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E et al.
European Journal of Human Genetics : Ejhg, 2002
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
Grünewald S et al.
American Journal of Human Genetics, 2001
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G et al.
Human Mutation, 2000
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.
Grünewald S et al.
Biochimica Et Biophysica Acta, 1999
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