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Literature DB >> 25649379

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

Jaak Jaeken¹, Dirk Lefeber², Gert Matthijs³.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2015 PMID： 25649379 PMCID： PMC4592101 DOI： 10.1038/ejhg.2015.9

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

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14 in total

1. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

Authors: T J de Koning; M Toet; L Dorland; L S de Vries; I E van den Berg; M Duran; B T Poll-The
Journal: J Inherit Metab Dis Date: 1998-08 Impact factor: 4.982

2. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

Authors: T Dupré; S Vuillaumier-Barrot; I Chantret; H Sadou Yayé; H S Yayé; C Le Bizec; A Afenjar; C Altuzarra; C Barnérias; L Burglen; P de Lonlay; F Feillet; S Napuri; N Seta; S E H Moore
Journal: J Med Genet Date: 2010-08-02 Impact factor: 6.318

3. Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.

Authors: M Huemer; W D Huber; W Schima; D Moeslinger; U Holzbach; R Wevers; H Wank; S Stoeckler-Ipsiroglu
Journal: J Pediatr Date: 2000-05 Impact factor: 4.406

4. Congenital disorder of glycosylation: a case presentation.

Authors: Timothy M Snow; Christopher W Woods; Amanda G Woods
Journal: Adv Neonatal Care Date: 2012-04 Impact factor: 1.968

5. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Authors: J Jaeken; M Pirard; M Adamowicz; E Pronicka; E van Schaftingen
Journal: Pediatr Res Date: 1996-11 Impact factor: 3.756

6. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

Authors: Christian Kranz; Jonas Denecke; Ludwig Lehle; Kristina Sohlbach; Stefanie Jeske; Friedhelm Meinhardt; Rainer Rossi; Sonja Gudowius; Thorsten Marquardt
Journal: Am J Hum Genet Date: 2004-02-17 Impact factor: 11.025

7. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Authors: Eva Morava; Julia Vodopiutz; Dirk J Lefeber; Andreas R Janecke; Wolfgang M Schmidt; Silvia Lechner; Chike B Item; Jolanta Sykut-Cegielska; Maciej Adamowicz; Jolanta Wierzba; Zong H Zhang; Ivana Mihalek; Sylvia Stockler; Olaf A Bodamer; Ludwig Lehle; Ron A Wevers
Journal: Pediatrics Date: 2012-09-10 Impact factor: 7.124

8. 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

9. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

Authors: Claudia E Grubenmann; Christian G Frank; Andreas J Hülsmeier; Els Schollen; Gert Matthijs; Ertan Mayatepek; Eric G Berger; Markus Aebi; Thierry Hennet
Journal: Hum Mol Genet Date: 2004-01-06 Impact factor: 6.150

Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.

1. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

2. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.

3. Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.

4. Congenital disorder of glycosylation: a case presentation.

5. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

6. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.

7. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

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

9. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

10. How to find and diagnose a CDG due to defective N-glycosylation.

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

2. ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.

3. Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

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

5. Quantitative Genetics of Food Intake in Drosophila melanogaster.

6. DPAGT1-Mediated Protein N-Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice.

7. Novel Genetic Variants of ALG6 and GALNTL4 of the Glycosylation Pathway Predict Cutaneous Melanoma-Specific Survival.

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