Literature DB >> 15235028

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

E Schollen, C G Frank, L Keldermans, R Reyntjens, C E Grubenmann, P T Clayton, B G Winchester, J Smeitink, R A Wevers, M Aebi, T Hennet, G Matthijs.   

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Year:  2004        PMID： 15235028      PMCID： PMC1735831          DOI： 10.1136/jmg.2003.016923

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


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  11 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.  ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Authors:  Daniah Albokhari; Bobby G Ng; Alis Guberinic; Earnest James Paul Daniel; Nicole M Engelhardt; Rita Barone; Agata Fiumara; Livia Garavelli; Gabriele Trimarchi; Lynne Wolfe; Kimiyo M Raymond; Eva Morava; Miao He; Hudson H Freeze; Christina Lam; Andrew C Edmondson
Journal:  J Inherit Metab Dis       Date:  2022-06-30       Impact factor: 4.750

4.  A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.

Authors:  Chad R Haldeman-Englert; Taiyabah Naeem; Elizabeth A Geiger; Ashley Warnock; Holly Feret; Melissa Ciano; Stefanie L Davidson; Matthew A Deardorff; Elaine H Zackai; Tamim H Shaikh
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

Review 5.  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 6.  The congenital disorders of glycosylation: a multifaceted group of syndromes.

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

7.  Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).

Authors:  Aaron Seo; Suleyman Gulsuner; Sarah Pierce; Miri Ben-Harosh; Hanna Shalev; Tom Walsh; Tanya Krasnov; Orly Dgany; Sergei Doulatov; Hannah Tamary; Akiko Shimamura; Mary-Claire King
Journal:  Hum Mol Genet       Date:  2019-01-01       Impact factor: 6.150

8.  Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Authors:  Jana Královicová; Mikkel B Christensen; Igor Vorechovský
Journal:  Nucleic Acids Res       Date:  2005-09-01       Impact factor: 16.971

9.  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

10.  Congenital protein hypoglycosylation diseases.

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