Literature DB >> 19357119

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

S Romano, F Bajolle, V Valayannopoulos, S Lyonnet, V Colomb, C de Baracé, P Vouhe, P Pouard, S Vuillaumier-Barrot, T Dupré, Y de Keyzer, D Sidi, N Seta, D Bonnet, P de Lonlay.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19357119     DOI： 10.1136/jmg.2008.057620

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  13 in total

Review 1.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982

Review 2.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

3.  Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.

Authors:  Xuehua Peng; Sukun Luo; Yufeng Huang; Li Tan; Jianbo Shao; Xuelian He
Journal:  Neurogenetics       Date:  2020-01-10       Impact factor: 2.660

4.  A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.

Authors:  Deniz Cagdas; Mustafa Yilmaz; Nurgün Kandemir; Ilhan Tezcan; Amos Etzioni; Özden Sanal
Journal:  J Clin Immunol       Date:  2014-09-21       Impact factor: 8.317

Review 5.  Cardiac involvement in hereditary ataxias.

Authors:  Sean Moore; Subha V Raman
Journal:  J Child Neurol       Date:  2012-07-04       Impact factor: 1.987

Review 6.  Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Authors:  D Marques-da-Silva; R Francisco; D Webster; V Dos Reis Ferreira; J Jaeken; T Pulinilkunnil
Journal:  J Inherit Metab Dis       Date:  2017-07-19       Impact factor: 4.982

Review 7.  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 8.  Cardiac Involvement in Movement Disorders.

Authors:  Malco Rossi; Nestor Wainsztein; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2021-04-07

9.  Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Authors:  Guillaume Dorval; Cécile Jeanpierre; Vincent Morinière; Carole Tournant; Bettina Bessières; Tania Attié-Bittach; Jeanne Amiel; Emmanuel Spaggari; Yves Ville; Elodie Merieau; Marie-Claire Gubler; Sophie Saunier; Laurence Heidet
Journal:  Pediatr Nephrol       Date:  2021-02-13       Impact factor: 3.714

10.  Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.

Authors:  Ruo-Hao Wu; Dong-Fang Li; Wen-Ting Tang; Kun-Yin Qiu; Yu Li; Xiong-Yu Liao; Dan-Xia Tang; Li-Jun Qin; Bing-Qing Deng; Xiang-Yang Luo
Journal:  J Med Case Rep       Date:  2018-01-24
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.