Results 51 to 60 of about 3,013 (227)

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

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

Molecular Genetics and Metabolism Reports
Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms ...
Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen   +6 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

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I [PDF]

, 2011
Congenital disorders of glycosylation (CDG) form a group of metabolic disorders caused by deficient glycosylation of proteins and/or lipids. Isoelectric focusing (IEF) of serum transferrin is the most common screening method to detect abnormalities of ...
Mailys Guillard, Yoshinao Wada, Hana Hansikova, Isao Yuasa, Katerina Vesela, Nina Ondruskova, Machiko Kadoya, Alice Janssen, Lambertus P. W. J. Van den Heuvel, Eva Morava, Jiri Zeman, Ron A. Wevers, Dirk J. Lefeber   +12 more
core   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

PLoS ONE, 2017
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates.
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez   +8 more
doaj   +1 more source

What was that again, Congenital Disorder of Glycosylation? [PDF]

, 2012
New technology and research are continuously changing our understanding of the human body, and newly emerging diseases are continuously being discovered, such as Congenital Disorder of Glycosylation (CDG).
Roberts, Janelle
core   +2 more sources

Differential effects of lobe A and lobe B of the conserved oligomeric golgi complex on the stability of β1,4-galactosyltransferase 1 and α2,6-sialyltransferase 1 [PDF]

, 2010
Erworben im Rahmen der Schweizer Nationallizenzen (http://www.nationallizenzen.ch)Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders.
Duvet, Sandrine, Foulquier, Francois, Legrand, Dominique, Matthijs, Gert, Mir, Anne-Marie, Peanne, Romain, Rohrer, Jack   +6 more
core   +2 more sources

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening [PDF]

Journal of Neurology, 2007
Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems.
Vermeer, S., Kremer, H.P.H., Leijten, Q.H., Scheffer, H., Matthijs, G., Wevers, R.A., Knoers, N.V.A.M., Morava, E., Lefeber, D.J.   +8 more
openaire   +3 more sources

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source