Literature DB >> 10896302

Carbohydrate-deficient glycoprotein syndromes: the Italian experience.

M Di Rocco1, R Barone, A Adami, A Burlina, M Carrozzi, C Dionisi-Vici, R Gatti, P Iannetti, R Parini, U Raucci, M Roccella, M Spada, A Fiumara.   

Abstract

Mesh：

Substances：

Year:  2000        PMID： 10896302     DOI： 10.1023/a:1005608019977

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


× No keyword cloud information.
  7 in total

Review 1.  Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.

Authors:  J Jaeken; P Casaer
Journal:  Eur J Paediatr Neurol       Date:  1997       Impact factor: 3.140

Review 2.  The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

Authors:  J Jaeken; H Stibler; B Hagberg
Journal:  Acta Paediatr Scand Suppl       Date:  1991

3.  Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Authors:  J Jaeken; G Matthijs; J M Saudubray; C Dionisi-Vici; E Bertini; P de Lonlay; H Henri; H Carchon; E Schollen; E Van Schaftingen
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

4.  Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Authors:  J Jaeken; J Artigas; R Barone; A Fiumara; T J de Koning; B T Poll-The; J F de Rijk-van Andel; G F Hoffmann; B Assmann; E Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; R Wevers; E Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  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

6.  Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Authors:  A Fiumara; R Barone; P Buttitta; M Di Pietro; A Scuderi; F Nigro; J Jaeken
Journal:  Br J Ophthalmol       Date:  1994-11       Impact factor: 4.638

7.  A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Authors:  P Burda; L Borsig; J de Rijk-van Andel; R Wevers; J Jaeken; H Carchon; E G Berger; M Aebi
Journal:  J Clin Invest       Date:  1998-08-15       Impact factor: 14.808
  7 in total
  6 in total

1.  Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.

Authors:  P Briones; M A Vilaseca; E Schollen; I Ferrer; M Maties; C Busquets; R Artuch; L Gort; M Marco; E van Schaftingen; G Matthijs; J Jaeken; A Chabás
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

2.  A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Authors:  Rita Barone; M Carrozzi; R Parini; R Battini; D Martinelli; M Elia; M Spada; F Lilliu; G Ciana; A Burlina; V Leuzzi; M Leoni; L Sturiale; G Matthijs; J Jaeken; M Di Rocco; D Garozzo; A Fiumara
Journal:  J Neurol       Date:  2014-10-30       Impact factor: 4.849

3.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

4.  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

Review 5.  Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

Authors:  E J Footitt; A Karimova; M Burch; T Yayeh; T Dupré; S Vuillaumier-Barrot; I Chantret; S E H Moore; N Seta; S Grunewald
Journal:  J Inherit Metab Dis       Date:  2009-09-07       Impact factor: 4.982

Review 6.  The congenital disorders of glycosylation: a multifaceted group of syndromes.

Authors:  Erik A Eklund; Hudson H Freeze
Journal:  NeuroRx       Date:  2006-04
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.