Novel variants in Turkish patients with glycogen storage disease-Reference-Cited by-同舟云学术

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Novel variants in Turkish patients with glycogen storage disease

Published:2020-09-28 Issue:10 Volume:62 Page:1145-1150
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Çakar Nafiye Emel¹^ORCID,Gezdirici Alper²,Topuz Hanım Şeyma³,Önal Hasan³

Affiliation:

1. Division of Pediatric Metabolism Okmeydanı Training and Research HospitalUniversity of Health Sciences İstanbulTurkey

2. Division of Medical Genetics Kanuni Sultan Süleyman Training and Research HospitalUniversity of Health Sciences İstanbulTurkey

3. Division of Pediatric Metabolism Kanuni Sultan Süleyman Training and Research HospitalUniversity of Health Sciences İstanbul Turkey

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.14286

Reference16 articles.

1. The Glycogen Storage Diseases and Related Disorders

2. Historical highlights and unsolved problems in glycogen storage disease type 1

3. Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

4. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Cited by 3 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. Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review;Journal of International Medical Research;2023-12

2. Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases;Frontiers in Genetics;2022-08-29

3. The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III;BMC Pediatrics;2022-05-16

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