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Congenital Disorders of Glycosylation

BIRTH AND GROWTH MEDICAL JOURNAL, 2022
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Lefeber DJ, Freeze HH, Steet R, Kinoshita T.   +3 more
europepmc   +5 more sources

Congenital disorders of glycosylation [PDF]

Annals of Translational Medicine, 2018
Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms ...
Irene J, Chang, Miao, He, Christina T, Lam   +2 more
openaire   +4 more sources

Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2023
Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystroglycan ...
M.A. Cubilla, G.M. Papazoglu, C.G. Asteggiano   +2 more
doaj   +1 more source

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

Congenital Disorders of Glycosylation: A Review [PDF]

Pediatric Research, 2002
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited disorders caused by defects in the synthesis and processing of the asparagine(ASN)-linked oligosaccharides of glycoproteins. The first CDG patients were described in 1980. Fifteen years later, a phosphomannomutase deficiency was found as the basis of the most frequent
Grunewald, Stephanie, Matthijs, Gert, Jaeken, Jaak   +2 more
openaire   +3 more sources

Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation

Cells, 2021
The Golgi is the central organelle of the secretory pathway and it houses the majority of the glycosylation machinery, which includes glycosylation enzymes and sugar transporters. Correct compartmentalization of the glycosylation machinery is achieved by
Zinia D’Souza, Farhana Taher Sumya, Amrita Khakurel, Vladimir Lupashin   +3 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

Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia

Case Reports in Ophthalmology, 2012
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
Bob Z. Wang, Pradeep Siriwardana, Deepa Taranath   +2 more
doaj   +1 more source

Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology

Frontiers in Pediatrics, 2015
Protein glycosylation is an important epigenetic modifying process affecting expression, localization, and function of numerous proteins required for normal immune function.
Jonathan J Lyons, Joshua eMilner, Sergio eRosenzweig   +2 more
doaj   +1 more source

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

Biomedicines, 2023
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation.
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha, Marek Nemčovič   +13 more
doaj   +1 more source