Literature DB >> 18949576

On the nomenclature of congenital disorders of glycosylation (CDG).

J Jaeken1, T Hennet, H H Freeze, G Matthijs.   

Abstract

A new nomenclature of CDG is proposed because the current one is too complex for clinicians and provides no added value.

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Year:  2008        PMID： 18949576     DOI： 10.1007/s10545-008-0983-x

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

1.  Congenital disorders of glycosylation.

Authors:  G Matthijs
Journal:  Trends Biochem Sci       Date:  2000-09       Impact factor: 13.807

2.  A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

Authors:  Christian Kranz; Christoph Jungeblut; Jonas Denecke; Anne Erlekotte; Christina Sohlbach; Volker Debus; Hans Gerd Kehl; Erik Harms; Anna Reith; Sonja Reichel; Helfried Grobe; Gerhard Hammersen; Ulrich Schwarzer; Thorsten Marquardt
Journal:  Am J Hum Genet       Date:  2007-01-31       Impact factor: 11.025

3.  Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Authors:  Michael A Simpson; Harold Cross; Christos Proukakis; David A Priestman; David C A Neville; Gabriele Reinkensmeier; Heng Wang; Max Wiznitzer; Kay Gurtz; Argyro Verganelaki; Anna Pryde; Michael A Patton; Raymond A Dwek; Terry D Butters; Frances M Platt; Andrew H Crosby
Journal:  Nat Genet       Date:  2004-10-24       Impact factor: 38.330

4.  Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

Authors:  M Aebi; A Helenius; B Schenk; R Barone; A Fiumara; E G Berger; T Hennet; T Imbach; A Stutz; C Bjursell; A Uller; J G Wahlström; P Briones; E Cardo; P Clayton; B Winchester; V Cormier-Dalre; P de Lonlay; M Cuer; T Dupré; N Seta; T de Koning; L Dorland; F de Loos; L Kupers
Journal:  Glycoconj J       Date:  1999-11       Impact factor: 2.916

5.  Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Authors:  J Jaeken; H Schachter; H Carchon; P De Cock; B Coddeville; G Spik
Journal:  Arch Dis Child       Date:  1994-08       Impact factor: 3.791

Review 6.  Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.

Authors:  Hudson H Freeze
Journal:  Curr Mol Med       Date:  2007-06       Impact factor: 2.222

Review 7.  Congenital disorders of glycosylation: a rapidly expanding disease family.

Authors:  Jaak Jaeken; Gert Matthijs
Journal:  Annu Rev Genomics Hum Genet       Date:  2007       Impact factor: 8.929
  7 in total
  27 in total

1.  Neurology of inherited glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

2.  Life with too much polyprenol: polyprenol reductase deficiency.

Authors:  J E H Gründahl; Z Guan; S Rust; J Reunert; B Müller; I Du Chesne; K Zerres; S Rudnik-Schöneborn; N Ortiz-Brüchle; M G Häusler; J Siedlecka; E Swiezewska; C R H Raetz; T Marquardt
Journal:  Mol Genet Metab       Date:  2011-12-29       Impact factor: 4.797

3.  Site mapping and characterization of O-glycan structures on alpha-dystroglycan isolated from rabbit skeletal muscle.

Authors:  Stephanie H Stalnaker; Sana Hashmi; Jae-Min Lim; Kazuhiro Aoki; Mindy Porterfield; Gerardo Gutierrez-Sanchez; James Wheeler; James M Ervasti; Carl Bergmann; Michael Tiemeyer; Lance Wells
Journal:  J Biol Chem       Date:  2010-05-27       Impact factor: 5.157

4.  De Barsy syndrome and ATP6V0A2-CDG.

Authors:  Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken
Journal:  Eur J Hum Genet       Date:  2009-12-16       Impact factor: 4.246

Review 5.  Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Authors:  Jaak Jaeken
Journal:  J Inherit Metab Dis       Date:  2011-03-08       Impact factor: 4.982

6.  Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

Authors:  M B Bistué Millón; M A Delgado; N B Azar; N Guelbert; L Sturiale; D Garozzo; G Matthijs; J Jaeken; Raquel Dodelson de Kremer; C G Asteggiano
Journal:  JIMD Rep       Date:  2011-06-22

7.  Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.

Authors:  S Huybrechts; C De Laet; P Bontems; S Rooze; H Souayah; Y Sznajer; L Sturiale; D Garozzo; G Matthijs; A Ferster; J Jaeken; P Goyens
Journal:  JIMD Rep       Date:  2011-11-02

8.  PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Authors:  Asbjørg Stray-Pedersen; Paul H Backe; Hanne S Sorte; Lars Mørkrid; Niti Y Chokshi; Hans Christian Erichsen; Tomasz Gambin; Katja B P Elgstøen; Magnar Bjørås; Marcin W Wlodarski; Marcus Krüger; Shalini N Jhangiani; Donna M Muzny; Ankita Patel; Kimiyo M Raymond; Ghadir S Sasa; Robert A Krance; Caridad A Martinez; Shirley M Abraham; Carsten Speckmann; Stephan Ehl; Patricia Hall; Lisa R Forbes; Else Merckoll; Jostein Westvik; Gen Nishimura; Cecilie F Rustad; Tore G Abrahamsen; Arild Rønnestad; Liv T Osnes; Torstein Egeland; Olaug K Rødningen; Christine R Beck; Eric A Boerwinkle; Richard A Gibbs; James R Lupski; Jordan S Orange; Ekkehart Lausch; I Celine Hanson
Journal:  Am J Hum Genet       Date:  2014-06-12       Impact factor: 11.025

9.  A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Authors:  Mohammed Al-Owain; Sarar Mohamed; Namik Kaya; Ahmad Zagal; Gert Matthijs; Jaak Jaeken
Journal:  Orphanet J Rare Dis       Date:  2010-04-16       Impact factor: 4.123

10.  CDG nomenclature: time for a change!

Authors:  Jaak Jaeken; Thierry Hennet; Gert Matthijs; Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09
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