Results 51 to 60 of about 3,636 (221)

Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Journal of Rare Diseases, 2022
Abstract Background and aim Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation.
Ana Piedade, Rita Francisco, Jaak Jaeken, Peymaneh Sarkhail, Sandra Brasil, Carlos R. Ferreira, Tatiana Rijoff, Carlota Pascoal, Alexandre Gil, Ana Beatriz Lourenço, Marta Abreu, Mafalda Gomes, Paula A. Videira, Vanessa dos Reis Ferreira   +13 more
openaire   +1 more source

N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]

, 2014
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit, Maipuu, Lea, Vals, Mari-Anne, Õunap, Katrin   +3 more
core   +2 more sources

GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB

Molecular Biomedicine, 2021
The congenital disorders of glycosylation (CDG) are a family of metabolic diseases in which glycosylation of proteins or lipids is deficient. GDP-mannose pyrophosphorylase B (GMPPB) mutations lead to CDG, characterized by neurological and muscular ...
Zhe Liu, Yan Wang, Fan Yang, Qin Yang, Xianming Mo, Ezra Burstein, Da Jia, Xiao-tang Cai, Yingfeng Tu   +8 more
doaj   +1 more source

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation [PDF]

, 2017
Background: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases.
de Freitas, C, dos Reis, V, Jaeken, J, Morava, E, Silva, S, Videira, PA   +5 more
core   +4 more sources

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Scientific Reports, 2023
Congenital disorders of glycosylation (CDG) are rare genetic disorders with a spectrum of clinical manifestations caused by abnormal N-glycosylation of secreted and cell surface proteins.
Sjors M. Kas, Piyushkumar A. Mundra, Duncan L. Smith, Richard Marais   +3 more
doaj   +1 more source

Glycosphingolipids in congenital disorders of glycosylation (CDG)

Molecular Genetics and Metabolism
Congenital disorders of glycosylation (CDG) are a large family of rare disorders affecting the different glycosylation pathways. Defective glycosylation can affect any organ, with varying symptoms among the different CDG. Even between individuals with the same CDG there is quite variable severity.
Pedrayes, Andrea Janez, Rymen, Daisy, Ghesquiere, Bart, Witters, Peter   +3 more
openaire   +3 more sources

RFT1‐CDG: Deafness as a novel feature of congenital disorders of glycosylation [PDF]

Journal of Inherited Metabolic Disease, 2009
SummaryCongenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N‐glycosylation, in protein O‐glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways ...
Jaeken, J, Vleugels, W, Régal, L, Corchia, C, Goemans, N, Haeuptle, M A, Foulquier, F, Hennet, T, Matthijs, G, Dionisi-Vici, C   +9 more
openaire   +2 more sources

Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran

Molecular Genetics & Genomic Medicine, 2023
Background Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O‐ as well as
Atefe Papi, Mina Zamani, Gholamreza Shariati, Alireza Sedaghat, Tahere Seifi, Samira Negahdari, Sahar Sadat Sedighzadeh, Jawaher Zeighami, Alihossein Saberi, Mohammad Hamid, Hamid Galehdari   +10 more
doaj   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

Molecular Genetics and Metabolism Reports
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai   +3 more
doaj   +1 more source