Screening for abnormal glycosylation in a cohort of adult liver disease patients-Reference-Cited by-同舟云学术

Screening for abnormal glycosylation in a cohort of adult liver disease patients

Published:2020-07-17 Issue:6 Volume:43 Page:1310-1320
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Jansen Jos C.¹²^ORCID,Hoek Bart³,Metselaar Herold J.⁴,Berg Aad P.⁵,Zijlstra Fokje²,Huijben Karin²,Scherpenzeel Monique²,Drenth Joost P. H.¹,Lefeber Dirk J.²

Affiliation:

1. Department of Gastroenterology and Hepatology Radboud University Medical Centre Nijmegen Netherlands

2. Department of Neurology, Translational Metabolic Laboratory Radboud University Medical Centre Nijmegen Netherlands

3. Department of Gastroenterology and Hepatology Leiden University Medical Centre Leiden Netherlands

4. Department of Gastroenterology and Hepatology Erasmus Medical Centre Rotterdam Rotterdam Netherlands

5. Department of Gastroenterology and Hepatology University Medical Centre Groningen Groningen Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12273

Reference39 articles.

1. Congenital disorders of glycosylation (CDG): Quo vadis?

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

3. Mutations in the V‐ATPase Assembly FactorVMA21Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

4. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

5. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

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