Results 21 to 30 of about 3,750 (209)

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a heterogeneous and rapidly growing group of diseases caused by abnormal glycosylation of proteins and/or lipids.
Beltran, S, Bravo, M, Briones, P, Dopazo, J, Egea, G, Foulquier, F, Fuster-Jorge, P, Garcia-Garcia, F, García-Pelegrí, E, Girós, M, Gonzalez-Bravo, MN, Llambrich, M, Matalonga, L, Matthijs, G, Mills, P, Quintana, E, Ribes, A, Serra-Peinado, C, Tort, F, Ugarteburu, O, Vidal, S   +20 more
core   +2 more sources

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

CDG due to Defective Membrane Transporters: Update. [PDF]

J Inherit Metab Dis
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
Quelhas D, Ferreira CR, Jaeken J.
europepmc   +2 more sources

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

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

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet Journal of Rare Diseases, 2021
Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska   +6 more
doaj   +1 more source

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Orphanet Journal of Rare Diseases, 2018
Background Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of ...
Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira   +8 more
doaj   +1 more source

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I [PDF]

, 2011
Congenital disorders of glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of ...
Mailys Guillard, Yoshinao Wada, Hana Hansikova, Isao Yuasa, Katerina Vesela, Nina Ondruskova, Machiko Kadoya, Alice Janssen, Lambertus P. W. J. Van den Heuvel, Eva Morava, Jiri Zeman, Ron A. Wevers, Dirk J. Lefeber   +12 more
core   +2 more sources