A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review-Reference-Cited by-同舟云学术

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A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review

Published:2022-08 Issue:8 Volume:65 Page:104535
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Manoochehri Jamal,Kamal Neda,Khamirani Hossein Jafari,Zoghi Sina,Haghighi Maryam Fazelzadeh,Goodarzi Hamed Reza,Bagher Tabei Seyed Mohammad

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference34 articles.

1. Smith-Lemli-Opitz Syndrome--GeneReviews®;Adam,2020

2. Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome;Akahira-Azuma;Hum. genome Var.,2018

3. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules;Ashkenazy;Nucleic Acids Res,2016

4. CDK13-related Disorder;Bostwick,2019

5. Congenital disorders of glycosylation;Chang;Ann. Transl. Med.,2018

Cited by 4 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. D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG);Molecular Genetics and Metabolism;2024-06

2. Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model;Molecular Genetics & Genomic Medicine;2024-05

3. Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review;The Journal of Dermatology;2023-06-02

4. The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review;European Journal of Medical Genetics;2023-04

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