Results 31 to 40 of about 784 (133)

PMM2-CDG and nephrotic syndrome: A case report. [PDF]

Clin Case Rep, 2022
CDG are a group of diseases altering the glycosylation process. Enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with nephrotic ...
Banderali G, Salvatici E, Rovelli V, Jaeken J.   +3 more
europepmc   +7 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, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium   +11 more
doaj   +2 more sources

Recurrent fetal truncus arteriosus associated with PMM2-CDG. [PDF]

JIMD Rep, 2021
Malheiro F, Silva M, Macedo C, Ramalho C.   +3 more
europepmc   +4 more sources

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. [PDF]

Genes (Basel), 2023
Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to the disease pathology.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T.   +12 more
europepmc   +3 more sources

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Molecular Genetics and Metabolism, 2021
Anna Čechová, Tomas Honzik, Andrew C Edmondson   +2 more
exaly   +2 more sources

PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE [PDF]

精准医学杂志, 2023
Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed
WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
doaj   +1 more source

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. [PDF]

Ann Neurol, 2021
ObjectiveEpalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy. We evaluated the genetic, biochemical, and clinical characteristics, including the Nijmegen Progression CDG Rating Scale (
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E.   +25 more
europepmc   +5 more sources

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation

Frontiers in Immunology, 2022
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi   +10 more
doaj   +1 more source

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]

Hum Mutat
We 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, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.   +24 more
europepmc   +6 more sources

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment [PDF]

Orphanet Journal of Rare Diseases, 2015
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
García-Cazorla, Angels, Pérez-Dueñas, Belén, Serrano, Mercedes, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Cuadras, Cristina, Jaeken, Jaak, Artuch, Rafael, De Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Pérez González, María Belén, Velázquez, Ramón, Boix, Cristina, Robles, Bernabé, O'Callaghan, M. Mar, Poo, Pilar, Fons, Carmen, Pérez-Cerdá, Celia   +22 more
openaire   +8 more sources