Results 11 to 20 of about 3,636 (221)

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation [PDF]

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +4 more sources

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes [PDF]

Frontiers in Endocrinology
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 more
doaj   +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

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

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

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

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

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

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