Associated Papers
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.
Zhang H et al.
Molecular Genetics and Metabolism, 2025
Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan.
Okamoto N et al.
Journal of Human Genetics, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.
Okamoto N et al.
Jimd Reports, 2025
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.
Oliveira T et al.
Orphanet Journal of Rare Diseases, 2025
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A et al.
Journal of Inherited Metabolic Disease, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
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
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].
Ren C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.
Choi R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
Kondo I et al.
Clinical Genetics, 1999
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G et al.
American Journal of Human Genetics, 1998
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0