Associated Papers
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
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S et al.
Human Mutation, 2024
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Segovia-Falquina C et al.
Human Mutation, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2020
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Francisco R et al.
Journal of Clinical Medicine, 2020
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF et al.
Annals of Neurology, 2019
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL et al.
Orphanet Journal of Rare Diseases, 2017
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M et al.
Orphanet Journal of Rare Diseases, 2015
Expanding the Spectrum of PMM2-CDG Phenotype.
Vuillaumier-Barrot S et al.
Jimd Reports, 2012
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Pérez B et al.
Jimd Reports, 2011
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.
Quelhas D et al.
Annals of Human Genetics, 2007
[Congenital disorders of glycosylation. Their diagnosis and treatment].
Pérez-Cerdá C et al.
Revista De Neurologia, 2006
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Briones P et al.
Journal of Inherited Metabolic Disease, 2002
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
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
Matthijs G et al.
Human Mutation, 2000
[Human fibroblast bank for studying amino acid disorders and organic acidemias].
del Valle JA et al.
Revista Espanola De Fisiologia, 1982
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0