Literature DB >> 11003549

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

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.   

Abstract

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Year:  1999        PMID： 11003549     DOI： 10.1023/a:1017249723165

Source DB:  PubMed          Journal:  Glycoconj J        ISSN： 0282-0080            Impact factor:   2.916


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  33 in total

1.  The clinical relevance of glycobiology.

Authors:  H Schachter
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

2.  Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

Authors:  Bengt Hansske; Christian Thiel; Torben Lübke; Martin Hasilik; Stefan Höning; Verena Peters; Peter H Heidemann; Georg F Hoffmann; Eric G Berger; Kurt von Figura; Christian Körner
Journal:  J Clin Invest       Date:  2002-03       Impact factor: 14.808

Review 3.  New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system.

Authors:  Bradley S Miller; Hudson H Freeze
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

4.  Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).

Authors:  S Grünewald; R De Vos; J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  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

6.  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

7.  Development of immunoglobulin A nephropathy- like disease in beta-1,4-galactosyltransferase-I-deficient mice.

Authors:  Toshikazu Nishie; Osamu Miyaishi; Haruhito Azuma; Akihiko Kameyama; Chie Naruse; Noriyoshi Hashimoto; Hitoshi Yokoyama; Hisashi Narimatsu; Takashi Wada; Masahide Asano
Journal:  Am J Pathol       Date:  2007-02       Impact factor: 4.307

8.  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

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.  Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

Authors:  François Foulquier; Eliza Vasile; Els Schollen; Nico Callewaert; Tim Raemaekers; Dulce Quelhas; Jaak Jaeken; Philippa Mills; Bryan Winchester; Monty Krieger; Wim Annaert; Gert Matthijs
Journal:  Proc Natl Acad Sci U S A       Date:  2006-02-28       Impact factor: 11.205
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