Results 181 to 190 of about 3,636 (221)

Congenital disorder of glycosylation (CDG) type Ie. A new patient

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: CDG Ie is caused by a deficiency of dolichol‐phosphate‐mannose synthase 1 (DPM1), an enzyme involved in N‐glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families.
M T, García-Silva, G, Matthijs, E, Schollen, J C, Cabrera, J, Sanchez del Pozo, M, Martí Herreros, R, Simón, M, Maties, E, Martín Hernández, T, Hennet, P, Briones   +10 more
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Congenital disorders of glycosylation (CDG): Update and new developments

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O‐mannosylglycan assembly defects, and on new presentations of CDG.
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Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG)

2013
Glycosylation is the addition of sugars (glycans) to proteins and lipids. Defective synthesis, assembly, or processing of glycans results in a group of disorders known as congenital disorders of glycosylation (CDG). Next-generation sequencing (NGS) technology is used in many molecular diagnostic laboratories and consists of comprehensive panels of ...
Melanie Jones, Madhuri Hegde
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Congenital Disorders of Glycosylation (CDG) of N-Glycoprotein

2020
Among the PTMs, the N-Glycosylation is the representative sugar–amino acid linkages of glycoproteins. Glycans attached to protein by a GlcNAcβ1-N-Asn linkage are called N-glycans. N-glycosylation has been named by the process of adding an N-glycan to a protein, where more than 50% of all proteins in humans have been suggested to be N-glycosylated.
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Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb

Journal of Human Genetics, 2018
This study is to present two Chinese siblings who were diagnosed with congenital disorders of glycosylation (CDG) IIb because of mannosyl-oligosaccharide glucosidase (MOGS) deficiency. The siblings visited our hospital due to "pulmonary infection". Facial dysmorphism including long eyelashes, blepharophimosis, depressed nasal bridge, and high palate ...
Min Li, Yuanyuan Xu, Yajian Wang, Xiu-An Yang, Danqun Jin   +4 more
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Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

European Journal of Paediatric Neurology, 2001
Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history
Briones P, Vilaseca MA, García-Silva MT, Pineda M, Colomer J, Ferrer I, Artigas J, Jaeken J, Chabás A   +8 more
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[Congenital Disorders of Glycosylation (CDG)].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2008
P, de Lonlay, V, Valayannopoulos, T, Dupré, S, Vuillaumier-Barrot, N, Seta   +4 more
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Congenital disorders of glycosylation (CDG): It's all in it!

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: Congenital disorders of glycosylation (CDGs) are due to defects in the synthesis of the glycan moiety of glycoproteins or other glycoconjugates. This review is devoted mainly to the clinical aspects of protein glycosylation defects. There are two main types of protein glycosylation: N‐glycosylation and O‐glycosylation.
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Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Journal of Inherited Metabolic Disease, 2011
AbstractCongenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled ‘Congenital disorders of glycosylation CDG): It's all in it!’.
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Congenital Disorders of Glycosylation (CDG): from glycoproteins to patient care

2012
Carbohydrates are at the forefront of Congenital Disorders of Glycosylation (CDG), a rapidly growing family of genetic diseases with more than 50 members identified at the molecular and biochemical level since the first clinical description in 1980.
Vanessa Ferreira, Paz Briones, Maria-Antonia Vilaseca   +2 more
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