Results 11 to 20 of about 2,105 (164)

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase 2 congenital disorder of glycosylation (PMM2‐CDG) is a rare, autosomal recessive disease caused by PMM2 deficiency, which impairs conversion of mannose‐6‐phosphate into mannose‐1‐phosphate (M1P) and disrupts N‐linked glycosylation.
Serrano M, Epifani F, Marino R, McWilliams P.   +3 more
europepmc   +2 more sources

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways, the functional consequences of these alterations remain poorly understood.
Gallego D, Andreotti G, Monticelli M, Paris D, Martín-Martínez A, Gámez A, Serrano M, Córdoba-Caballero J, Seoane P, Ranea JAG, Pérez B.   +10 more
europepmc   +2 more sources

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira   +13 more
doaj   +1 more source

On the nomenclature of congenital disorders of glycosylation (CDG) [PDF]

Journal of Inherited Metabolic Disease, 2008
SummaryA new nomenclature of CDG is proposed because the current one is too complex for clinicians and provides no added value.
Jaeken, J, Hennet, T, Freeze, H H, Matthijs, G   +3 more
openaire   +3 more sources

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Molecular Genetics and Metabolism Reports, 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel   +14 more
doaj   +1 more source

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

Diagnostics, 2021
Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications ...
Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek   +4 more
doaj   +1 more source

Congenital Disorders of Glycosylation: What Clinicians Need to Know?

Frontiers in Pediatrics, 2021
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous disorders characterized by defects in the synthesis of glycans and their attachment to proteins and lipids.
Patryk Lipiński, Anna Tylki-Szymańska
doaj   +1 more source

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

Frontiers in Genetics, 2021
Congenital disorders of glycosylation (CDG) are a widely acknowledged group of metabolic diseases. PMM2-CDG is the most frequently diagnosed CDG with a prevalence as high as one in 20,000.
Sander Pajusalu, Sander Pajusalu, Mari-Anne Vals, Mari-Anne Vals, Laura Mihkla, Laura Mihkla, Ustina Šamarina, Tiina Kahre, Tiina Kahre, Katrin Õunap, Katrin Õunap   +10 more
doaj   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Two affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +2 more sources

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

Orphanet Journal of Rare Diseases, 2020
Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders.
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, Monika Pathak, Antonia Miñano, Mercedes Serrano, Delphine Borgel, Vanessa Roldán, Vicente Vicente, Jonas Emsley, Javier Corral   +10 more
doaj   +1 more source