Results 41 to 50 of about 11,049 (200)

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report

Journal of Medical Case Reports, 2018
Background Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs ...
Ruo-hao Wu, Dong-fang Li, Wen-ting Tang, Kun-yin Qiu, Yu Li, Xiong-yu Liao, Dan-xia Tang, Li-jun Qin, Bing-qing Deng, Xiang-yang Luo   +9 more
doaj   +1 more source

Neonatal Presentations of Congenital Disorders of Glycosylation [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a variable, rapidly expanding group of genetic metabolic disorders. Glycosylation is fundamental to the processing of proteins and lipids, and as such, disorders in these pathways can cause multisystemic ...
Sanmati R. Cuddapah, Rebecca D. Ganetzky
core   +1 more source

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

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study [PDF]

, 2018
Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients.
Marques-da-Silva, Dorinda, Videira, Paula A, R. Francisco, Forbat, L., dos Reis Ferreira, Vanessa, Jaeken, J., Francisco, Rita, Forbat, Liz, D. Cassiman, Jaeken, Jaak, Lagoa, R., Francisco, R., Lagoa, Ricardo, L. Forbat, P. Witters, Witters, Peter, Cassiman, D., Videira, P.A., D. Marques-da-Silva, Cassiman, David, Videira, Paula A., Witters, P., Marques-da-Silva, D., J. Jaeken, P. A. Videira, R. Lagoa, Dos Reis Ferreira, V., V. dos Reis Ferreira   +27 more
core   +1 more source

Congenital disorders of glycosylation: new defects and still counting [PDF]

, 2014
Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present as clinical syndromes, affecting multiple systems including the central nervous system,
Kozicz, T., Scott, K., Morava, Eva, Gadomski, T.   +3 more
core   +3 more sources

Research advances of protein N-glycosylation’s biological functions and analytical methods and its role in kidney disease

Linchuang shenzangbing zazhi, 2021
As one of the most important post-translational modifications, glycosylation plays a significant role in the functions of proteins.N-glycosylation exerts critical effects in different biological processes among various forms of glycosylation, whereas ...
任伟夫, 边琪
doaj  

The Swedish COG6‐CDG experience and a comprehensive literature review

JIMD Reports, 2023
Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD ...
Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund   +9 more
doaj   +1 more source

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

Diseases of glycosylation beyond classical congenital disorders of glycosylation [PDF]

, 2012
BACKGROUND: Diseases of glycosylation are rare inherited disorders, which are often referred to as congenital disorders of glycosylation (CDG). Several types of CDG have been described in the last decades, encompassing defects of nucleotide-sugar ...
Hennet, Thierry, Thierry Hennet
core   +1 more source

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up [PDF]

, 2019
© 2019 SSIEM Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe ...
Barone, Rita, de Lonlay, Pascale, Coman, David, Cassiman, David, Jaeken, Jaak, Altassan, Ruqaiah, Corral, Javier, Brasil, Sandra, Cechova, Anna, Correia, Joana, Peanne, Romain, de la Morena-Barrio, Maria Eugenia, Bidet, Muad, Borgel, Delphine, et al.   +14 more
core   +1 more source