Results 131 to 140 of about 2,105 (164)

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!’.
Jaak Jaeken
exaly   +3 more sources

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Human Genetics, 2000
Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, represent a family of genetic diseases with variable clinical presentations. Common to all types of CDG characterized to date is a defective Asn-linked glycosylation caused by enzymatic defects of N-glycan synthesis.
Imbach, T., Grunewald, S., Schenk, B., Burda, P., Schollen, E., Wevers, R.A., Jaeken, J., Klerk, J.B.C. de, Berger, E.G., Matthijs, G., Aebi, M., Hennet, T.   +11 more
openaire   +4 more sources

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
openaire   +1 more source

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.
García-Silva, M. T., Matthijs, G., Schollen, E., Cabrera, J. C., del Pozo, J. Sanchez, Herreros, M. Martí, Simón, R., Maties, M., Hernández, E. Martín, Hennet, T., Briones, P.   +10 more
openaire   +3 more sources

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.
openaire   +2 more sources

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.
openaire   +1 more source

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.
openaire   +1 more source

Congenital disorder of glycosylation Ib (CDG‐Ib) without gastrointestinal symptoms

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: We report a 7‐year‐old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.
D, Penel-Capelle, D, Dobbelaere, J, Jaeken, A, Klein, M, Cartigny, J, Weill   +5 more
openaire   +2 more sources

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Journal of Inherited Metabolic Disease, 2017
AbstractCongenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly‐organ ‐system dysfunction.
D, Marques-da-Silva, R, Francisco, D, Webster, V, Dos Reis Ferreira, J, Jaeken, T, Pulinilkunnil   +5 more
openaire   +2 more sources

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
openaire   +3 more sources