Associated Papers
Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases.
Chen S et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2024
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Vega AI et al.
Journal of Inherited Metabolic Disease, 2011
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Pérez B et al.
Jimd Reports, 2011
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI et al.
Human Mutation, 2009
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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