Results 121 to 130 of about 5,529 (148)

New and potential strategies for the treatment of PMM2-CDG [PDF]

Biochimica Et Biophysica Acta - General Subjects, 2020
Mutations in the PMM2 gene cause phosphomannomutase 2 deficiency (PMM2; MIM# 212065), which manifests as a congenital disorder of glycosylation (PMM2-CDG). Mutant PMM2 leads to the reduced conversion of Man-6-P to Man-1-P, which results in low concentrations of guanosine 5'-diphospho-D-mannose, a nucleotide-activated sugar essential for the ...
Mercedes Serrano, Alejandra Gamez, Belén Pérez   +2 more
exaly   +6 more sources

Abnormal fat distribution in PMM2-CDG [PDF]

Molecular Genetics and Metabolism, 2013
We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while ...
E Morava
exaly   +5 more sources

Patient-reported outcomes and quality of life in PMM2-CDG

Molecular Genetics and Metabolism, 2022
Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort.
Eva Morava, Andrew C Edmondson, Wirginia Krzyściak   +2 more
exaly   +4 more sources

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of Neurology, 2014
PMM2-CDG (PMM2 gene mutations) is the most common congenital disorder of N-glycosylation. We conducted a nationwide survey to characterize the frequency, clinical features, glycosylation and genetic correlates in Italian patients with PMM2-CDG.
Rita Barone, Maja Di Rocco
exaly   +3 more sources

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Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

Thrombosis Research, 2014
PMM2-CDG, the most frequent congenital disorder of N-glycosylation, is an autosomal recessive disease with a multisystem presentation. PMM2-CDG patients show an increased risk for thrombosis, which might be in part due to spontaneous platelet aggregations as previously described.
María Eugenia de la Morena Barrio, Vicente Vicente, Kathleen Freson   +2 more
exaly   +3 more sources

Sensitivity of transferrin isoform analysis for PMM2-CDG

Molecular Genetics and Metabolism
Transferrin isoform analysis is an established laboratory test for congenital disorders of glycosylation (CDG). Despite its long history of clinical use, little has been published about its empirical sensitivity for specific conditions. We conducted a retrospective analysis of ten years of testing data and report our experience with transferrin testing
Patrica L, Hall, Kris, Liedke, Coleman, Turgeon, Amy, White, Gesele Bentz, Pino, Dawn, Peck, April, Studinski, Dimitar, Gavrilov, Silvia, Tortorelli, Devin, Oglesbee, Dietrich, Matern, Kimiyo, Raymond, Matthew J, Schultz   +12 more
openaire   +2 more sources

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)

Journal of Inherited Metabolic Disease, 2011
AbstractDeficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis.
Ana Isabel, Vega, Celia, Pérez-Cerdá, David, Abia, Alejandra, Gámez, Paz, Briones, Rafael, Artuch, Lourdes R, Desviat, Magdalena, Ugarte, Belén, Pérez   +8 more
openaire   +2 more sources

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Journal of Medical Genetics, 2018
Introduction Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train ...
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, Jordi Muchart, César Arjona, Mar Borregan, Adi Algrabli, Raquel Montero, Rafael Artuch, Ramón Velázquez-Fragua, Alfons Macaya, Celia Pérez-Cerdá, Belén Pérez-Dueñas, Belén Pérez, Mercedes Serrano   +14 more
openaire   +3 more sources

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Neuropediatrics, 2018
Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items.
Itzep D, Martínez-Monseny AF, Bolasell M, Cuadras D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M   +8 more
openaire   +3 more sources