<scp>COG6‐CDG</scp> : Novel variants and novel malformation-Reference-Cited by-同舟云学术

COG6‐CDG : Novel variants and novel malformation

Published:2022-01-23 Issue:5-6 Volume:114 Page:165-174
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Cirnigliaro Lara¹,Bianchi Paolo²,Sturiale Luisa³,Garozzo Domenico³,Mangili Giovanna²,Keldermans Liesbeth⁴,Rizzo Renata¹,Matthijs Gert⁴,Fiumara Agata⁵,Jaeken Jaak⁶,Barone Rita¹³⁵^ORCID

Affiliation:

1. Child Neurology and Psychiatry Section, Department of Clinical and Experimental Medicine University of Catania Catania

2. Neonatology Unit Giovanni XXIII Hospital Bergamo Italy

3. CNR, Institute for Polymers, Composites and Biomaterials IPCB Catania

4. Department of Human Genetics KU Leuven Leuven Belgium

5. Referral Centre for Inherited Metabolic Disease Department of Clinical and Experimental Medicine, University of Catania Catania

6. Department of Development and Regeneration, Centre for Metabolic Diseases University Hospital Gasthuisberg, KU Leuven Catania Belgium

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1981

Reference32 articles.

1. Congenital disorders of glycosylation: The Saudi experience

2. Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

3. The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

4. Maintaining order:COGcomplex controls Golgi trafficking, processing, and sorting

5. Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresis of Serum Transferrin

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1. Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022;Mass Spectrometry Reviews;2024-06-24

2. COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient;Human Mutation;2024-02-12

3. N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1 ‐deficient patient‐derived dermal fibroblasts;Journal of Inherited Metabolic Disease;2022-10-04

4. The Swedish COG6‐CDG experience and a comprehensive literature review;JIMD Reports;2022-09-21