Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG [PDF]
Molecular Genetics and Metabolism Reports, 2021 We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern.
C.A. González-Domínguez +16 more
doaj +2 more sources
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]
Hum MutatWe report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations.
Pajusalu S +24 more
europepmc +7 more sources
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects [PDF]
Molecular Genetics and Metabolism Reports, 2020 Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher +12 more
doaj +2 more sources
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. [PDF]
Mol Genet MetabPatient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and research, though their use in rare diseases remains limited. In disorders with significant phenotypic variation, selecting appropriate outcome measures is crucial to ensuring the relevance of clinical trials for the patient population ...
Verberkmoes S +15 more
europepmc +4 more sources
Three families with mild PMM2-CDG and normal cognitive development. [PDF]
Am J Med Genet A, 2017 Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2‐CDG is the most common subtype among the CDG. The severity of PMM2‐CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death.
Vals MA +6 more
europepmc +5 more sources
Recurrent fetal truncus arteriosus associated with PMM2-CDG. [PDF]
JIMD Rep, 2021 Malheiro F +3 more
europepmc +4 more sources
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation [PDF]
Molecular Genetics and Metabolism, 2023 Gérard Berry +2 more
exaly +2 more sources
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) [PDF]
Orphanet Journal of Rare Diseases, 2017 Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano +11 more
doaj +2 more sources
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]
J Inherit Metab DisABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Epifani F +14 more
europepmc +2 more sources
Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence [PDF]
Frontiers in Pediatrics, 2021 Mercedes Serrano, Serrano Mercedes
exaly +2 more sources