Congenital disorders of glycosylation (CDG): Quo vadis?-Reference-Cited by-同舟云学术

Congenital disorders of glycosylation (CDG): Quo vadis?

Published:2018-11 Issue:11 Volume:61 Page:643-663
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Péanne Romain,de Lonlay Pascale,Foulquier François,Kornak Uwe,Lefeber Dirk J.,Morava Eva,Pérez Belén,Seta Nathalie,Thiel Christian,Van Schaftingen Emile,Matthijs Gert,Jaeken Jaak

Funder

European Commission's

European Union's Horizon 2020

Fondo de Investigaciones Sanitarias and European Regional Development Fund

Fundación Isabel Gemio

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference50 articles.

1. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation;Barone;J. Neurol.,2015

2. Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2;Cabezas;J. Am. Soc. Nephrol.,2017

3. Amino acid synthesis deficiencies;de Koning;Handb. Clin. Neurol.,2013

4. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases;de Lonlay;J. Med. Genet.,2001

5. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG) : molecular basis, clinical phenotype, and therapeutic approach;Dörre;J. Inherit. Metab. Dis.,2015

Cited by 201 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation;Molecular Genetics and Metabolism;2024-09

2. Sensitivity of transferrin isoform analysis for PMM2-CDG;Molecular Genetics and Metabolism;2024-09

3. Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165;Journal of Biological Chemistry;2024-08

4. Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein;Journal of Human Genetics;2024-07-11

5. Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition;The FASEB Journal;2024-07-04