Results 41 to 50 of about 794 (130)

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

Molecular Genetics and Metabolism, 2021
Rita Barone, Eva Morava, Manuel Schiff   +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

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]

J Inherit Metab Dis
Abstract PMM2‐CDG (formerly CDG‐1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2‐CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide.
Weixel T, Adedipe D, Muldoon G, Lam C, Krasnewich D, Thurm A, Wolfe L.   +6 more
europepmc   +2 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

Renal involvement in PMM2-CDG, a mini-review [PDF]

Molecular Genetics and Metabolism, 2018
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation.
Altassan, Ruqaiah, Witters, Peter, Saifudeen, Zubaida, Quelhas, Dulce, Jaeken, Jaak, Levtchenko, Elena, Cassiman, David, Morava, Eva   +7 more
openaire   +2 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   +7 more sources

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

Molecular Genetics and Metabolism Reports, 2021
Introduction: The incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in ...
Patryk Lipiński, Anna Bogdańska, Anna Tylki-Szymańska   +2 more
doaj   +1 more source

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

JCRPE, 2022
INTRODUCTION: Phosphomannomutase 2 deficiency (PMM2-CDG) is a disorder of protein N-glycosylation with a wide clinical spectrum. Hypoglycemia is rarely reported in PMM2-CDG.
Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu   +7 more
doaj   +1 more source

Expanding the Spectrum of PMM2-CDG Phenotype [PDF]

, 2011
Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG.
Sandrine, Vuillaumier-Barrot, Bertrand, Isidor, Thierry, Dupré, Christiane, Le Bizec, Albert, David, Nathalie, Seta   +5 more
openaire   +2 more sources

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
ABSTRACT Phosphomannomutase‐2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +2 more sources