Literature DB >> 19765534

CDG nomenclature: time for a change!

Jaak Jaeken1, Thierry Hennet, Gert Matthijs, Hudson H Freeze.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19765534      PMCID： PMC3917312          DOI： 10.1016/j.bbadis.2009.08.005

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


× No keyword cloud information.
  11 in total

Review 1.  Genetic defects in the human glycome.

Authors:  Hudson H Freeze
Journal:  Nat Rev Genet       Date:  2006-06-06       Impact factor: 53.242

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

Authors:  J Jaeken; T Hennet; H H Freeze; G Matthijs
Journal:  J Inherit Metab Dis       Date:  2008-10-24       Impact factor: 4.982

3.  A new variant of the carbohydrate deficient glycoproteins syndrome.

Authors:  V T Ramaekers; H Stibler; J Kint; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Authors:  G Matthijs; E Schollen; E Pardon; M Veiga-Da-Cunha; J Jaeken; J J Cassiman; E Van Schaftingen
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

5.  A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Authors:  G J Gerwig; E Bause; L K Nuytinck; J F Vliegenthart; W Breuer; J P Kamerling; M F Espeel; J J Martin; N W Chan; G A Dacremont
Journal:  Am J Hum Genet       Date:  2000-04-28       Impact factor: 11.025

6.  Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Authors:  Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk Lefeber; Zsolt Urban; Stephanie Gruenewald; Wim Annaert; Han G Brunner; Hans van Bokhoven; Ron Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Journal:  Nat Genet       Date:  2007-12-23       Impact factor: 38.330

7.  Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.

Authors:  J Jaeken; H G van Eijk; C van der Heul; L Corbeel; R Eeckels; E Eggermont
Journal:  Clin Chim Acta       Date:  1984-12-29       Impact factor: 3.786

8.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Van Schaftingen; J Jaeken
Journal:  FEBS Lett       Date:  1995-12-27       Impact factor: 4.124

Review 9.  Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.

Authors:  Renate Zeevaert; François Foulquier; Jaak Jaeken; Gert Matthijs
Journal:  Mol Genet Metab       Date:  2007-09-29       Impact factor: 4.797

Review 10.  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
View more
  51 in total

1.  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

2.  DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Authors:  Melanie A Jones; Bobby G Ng; Shruti Bhide; Ephrem Chin; Devin Rhodenizer; Ping He; Marie-Estelle Losfeld; Miao He; Kimiyo Raymond; Gerard Berry; Hudson H Freeze; Madhuri R Hegde
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

3.  TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Authors:  S Schulte Althoff; M Grüneberg; J Reunert; J H Park; S Rust; C Mühlhausen; Y Wada; R Santer; T Marquardt
Journal:  JIMD Rep       Date:  2015-08-04

Review 4.  N-glycoprotein macroheterogeneity: biological implications and proteomic characterization.

Authors:  Lucia F Zacchi; Benjamin L Schulz
Journal:  Glycoconj J       Date:  2015-12-05       Impact factor: 2.916

5.  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 6.  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

7.  COG5-CDG with a Mild Neurohepatic Presentation.

Authors:  C W Fung; G Matthijs; L Sturiale; D Garozzo; K Y Wong; R Wong; V Wong; J Jaeken
Journal:  JIMD Rep       Date:  2011-09-22

8.  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

Review 9.  Understanding human glycosylation disorders: biochemistry leads the charge.

Authors:  Hudson H Freeze
Journal:  J Biol Chem       Date:  2013-01-17       Impact factor: 5.157

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.