Literature DB >> 25052310

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.

Jaak Jaeken1, Dirk Lefeber2, Gert Matthijs3.   

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Year:  2014        PMID： 25052310      PMCID： PMC4297893          DOI： 10.1038/ejhg.2014.146

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  21 in total

1.  Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.

Authors:  C Körner; R Knauer; U Holzbach; F Hanefeld; L Lehle; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-27       Impact factor: 11.205

2.  ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Authors:  M Dercksen; A C Crutchley; E M Honey; M M Lippert; G Matthijs; L J Mienie; H C Schuman; B C Vorster; J Jaeken
Journal:  JIMD Rep       Date:  2012-07-01

3.  Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Authors:  V Westphal; S Murch; S Kim; G Srikrishna; B Winchester; R Day; H H Freeze
Journal:  Am J Pathol       Date:  2000-12       Impact factor: 4.307

4.  Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.

Authors:  Liangwu Sun; Erik A Eklund; Johan L K Van Hove; Hudson H Freeze; Janet A Thomas
Journal:  Am J Med Genet A       Date:  2005-08-15       Impact factor: 2.802

5.  Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

Authors:  V Westphal; C Schottstädt; T Marquardt; H H Freeze
Journal:  Mol Genet Metab       Date:  2000-07       Impact factor: 4.797

6.  Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Authors:  T Imbach; S Grünewald; B Schenk; P Burda; E Schollen; R A Wevers; J Jaeken; J B de Klerk; E G Berger; G Matthijs; M Aebi; T Hennet
Journal:  Hum Genet       Date:  2000-05       Impact factor: 4.132

7.  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

8.  Congenital disorder of glycosylation Ic in patients of Indian origin.

Authors:  J W Newell; N-S Seo; G M Enns; M McCraken; J F Mantovani; H H Freeze
Journal:  Mol Genet Metab       Date:  2003-07       Impact factor: 4.797

9.  Congenital disorder of glycosylation type Ic: report of a Japanese case.

Authors:  Kazushi Ichikawa; Machiko Kadoya; Yoshinao Wada; Nobuhiko Okamoto
Journal:  Brain Dev       Date:  2012-10-06       Impact factor: 1.961

10.  Prenatal diagnosis in CDG1 families: beware of heterogeneity.

Authors:  G Matthijs; E Schollen; J J Cassiman; V Cormier-Daire; J Jaeken; E van Schaftingen
Journal:  Eur J Hum Genet       Date:  1998 Mar-Apr       Impact factor: 4.246
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  6 in total

Review 1.  Congenital disorders of glycosylation.

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

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.  Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

Authors:  Agata Fiumara; Rita Barone; Giuliana Del Campo; Pasquale Striano; Jaak Jaeken
Journal:  JIMD Rep       Date:  2015-10-10

4.  ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Authors:  Eva Morava; Vera Tiemes; Christian Thiel; Nathalie Seta; Pascale de Lonlay; Hans de Klerk; Margot Mulder; Estela Rubio-Gozalbo; Gepke Visser; Peter van Hasselt; Dafne D G Horovitz; Carolina Fischinger Moura de Souza; Ida V D Schwartz; Andrew Green; Mohammed Al-Owain; Graciella Uziel; Sabine Sigaudy; Brigitte Chabrol; Franc-Jan van Spronsen; Martin Steinert; Eleni Komini; Donald Wurm; Andrea Bevot; Addelkarim Ayadi; Karin Huijben; Marli Dercksen; Peter Witters; Jaak Jaeken; Gert Matthijs; Dirk J Lefeber; Ron A Wevers
Journal:  J Inherit Metab Dis       Date:  2016-06-10       Impact factor: 4.982

5.  Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.

Authors:  Noor Badshah; Kari A Mattison; Sohail Ahmad; Pankaj Chopra; H Richard Johnston; Shakoor Ahmad; Sher Hayat Khan; Muhammad Tahir Sarwar; David J Cutler; Micheal Taylor; Gayatri Vadlamani; Michael E Zwick; Andrew Escayg
Journal:  Front Neurol       Date:  2022-07-14       Impact factor: 4.086

6.  Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.

Authors:  Rossella Colantuono; Elisa D'Acunto; Daniela Melis; Pietro Vajro; Hudson H Freeze; Claudia Mandato
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-10-01       Impact factor: 3.288
  6 in total

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