Results 1 to 10 of about 3,112 (224)

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG) [PDF]

Nutrients, 2017
Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group.
Witters, Peter, Cassiman, David, Morava, Eva   +2 more
openaire   +4 more sources

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG [PDF]

Biomolecules
STT3A encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all
Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, Georgia MacDonald, Yutaka Furuta, Daniel Schecter, Andrew C. Edmondson, Anne McRae, Josh Baker, Eva Morava, Rory J. Tinker   +10 more
doaj   +2 more sources

Protein losing enteropathy due to congenital disorder of glycosylation: A case report [PDF]

SAGE Open Medical Case Reports
Protein-Losing Enteropathy (PLE) is the loss of protein through the gastrointestinal tract, subsequently leading to low levels of protein in the serum. The differential diagnosis for PLE is broad, and treatment is based on identifying and appropriately ...
Joanna Odenthal MD, Henry C. Lin MD, Kimberly Trieschmann MD   +2 more
doaj   +2 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

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway [PDF]

Frontiers in Immunology
IntroductionGlycosylation is a post-translational modification that plays a crucial role in immune system activity. Phosphomannomutase 2-Congenital Disorder of Glycosylation (PMM2-CDG) is a rare genetic disease affecting glycosylation with a multi ...
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Pedro Granjo, Pedro Granjo, Pedro Granjo, Rebeka Kodríková, Marta Falcão, Marta Falcão, Marta Falcão, Ana C. Santos, Ana C. Santos, Ana C. Santos, Inês Teodoro, Inês Teodoro, Inês Teodoro, Zuzana Pakanová, Marek Nemčovič, Jan Mucha, Margarida Castro-Caldas, Margarida Castro-Caldas, Ana R. Grosso, Ana R. Grosso, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula A. Videira, Paula A. Videira, Paula A. Videira   +28 more
doaj   +2 more sources

Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG [PDF]

Biomolecules
SLC35A2-CDG is a congenital disorder of glycosylation caused by mutations in the SLC35A2 gene encoding a Golgi-localized UDP-galactose transporter.
Kazuyoshi Itoh, Masaki Kurogochi, Tadashi Kaname, Jun-ichi Furukawa, Shoko Nishihara   +4 more
doaj   +2 more sources

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases, 2021
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava   +7 more
doaj   +1 more source

A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report

Clinical Case Reports, 2022
Steroid 5α‐reductase type 3 congenital disorder of glycosylation (SRD5A3‐CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities ...
Sayyed Hesamedin Nabavizadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Hossein Esmaeilzadeh, Soheila Sadat Alyasin   +5 more
doaj   +1 more source

Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature

Therapeutic Advances in Rare Disease, 2022
Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms.
Diederik De Graef, Jehan Mousa, Marta Biderman Waberski, Eva Morava   +3 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