Congenital disorder of glycosylation with defective fucosylation 2 ( <i>FCSK</i> gene defect): The third report in the literature with a mild phenotype-Reference-Cited by-同舟云学术

Congenital disorder of glycosylation with defective fucosylation 2 ( FCSK gene defect): The third report in the literature with a mild phenotype

Published:2022-11-24 Issue:4 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Al Tuwaijri Abeer¹²³,Alyafee Yusra¹^ORCID,Umair Muhammad¹²,Alsubait Arwa²⁴^ORCID,Alharbi Mashael¹²,AlEidi Hamad¹²,Ballow Mariam¹²,Aldrees Mohammed¹²,Alam Qamre¹²,Al Abdulrahman Abdulkareem¹²,Alrifai Muhammad Talal⁵,Alfadhel Majid¹²⁶^ORCID

Affiliation:

1. Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia

2. King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG‐HA) Riyadh Saudi Arabia

3. Clinical Laboratory Sciences Department College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences (KSAU‐HS) Riyadh Saudi Arabia

4. Medical Research Core Facilities and Platforms King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia

5. Neurology Division, Department of Pediatrics King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA) Riyadh Saudi Arabia

6. Genetics and Precision Medicine Department (GPM) King Abdullah Specialized Children's Hospital Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2117

Reference20 articles.

1. Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

2. A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy

3. Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia

4. Next-Generation Sequencing-Based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A): First Report from Saudi Arabia

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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