Literature DB >> 16356445

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

Erik A Eklund1, Liangwu Sun, Vibeke Westphal, Jennifer L Northrop, Hudson H Freeze, Fernando Scaglia.   

Abstract

We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

Entities:  

Mesh：

Year:  2005        PMID： 16356445     DOI： 10.1016/j.jpeds.2005.07.042

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  12 in total

1.  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 2.  Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Authors:  D Marques-da-Silva; V Dos Reis Ferreira; M Monticelli; P Janeiro; P A Videira; P Witters; J Jaeken; D Cassiman
Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

3.  A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Authors:  Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies H Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin Huijben; Connie M A van Ravenswaaij-Arts; Marjolein C J Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michel A Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
Journal:  Brain       Date:  2010-09-17       Impact factor: 13.501

Review 4.  A new case of ALG8 deficiency (CDG Ih).

Authors:  K Vesela; T Honzik; H Hansikova; M A Haeuptle; J Semberova; Z Stranak; T Hennet; J Zeman
Journal:  J Inherit Metab Dis       Date:  2009-08-18       Impact factor: 4.982

Review 5.  The congenital disorders of glycosylation: a multifaceted group of syndromes.

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

6.  Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Authors:  Melanie A Jones; Shruti Bhide; Ephrem Chin; Bobby G Ng; Devin Rhodenizer; Victor W Zhang; Jessica J Sun; Alice Tanner; Hudson H Freeze; Madhuri R Hegde
Journal:  Genet Med       Date:  2011-11       Impact factor: 8.822

7.  From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Authors:  Livia Kapusta; Nili Zucker; George Frenckel; Benjamin Medalion; Tuvia Ben Gal; Einat Birk; Hanna Mandel; Nadim Nasser; Sarah Morgenstern; Andreas Zuckermann; Dirk J Lefeber; Arjen de Brouwer; Ron A Wevers; Avraham Lorber; Eva Morava
Journal:  Heart Fail Rev       Date:  2013-03       Impact factor: 4.214

8.  Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation.

Authors:  Patryk Lipiński; Anna Bogdańska; Piotr Socha; Anna Tylki-Szymańska
Journal:  Front Pediatr       Date:  2021-07-05       Impact factor: 3.418

9.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05

10.  Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Authors:  E Morava; H Wosik; J Kárteszi; M Guillard; M Adamowicz; J Sykut-Cegielska; K Hadzsiev; R A Wevers; D J Lefeber
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.750
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.