Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia-Reference-Cited by-同舟云学术

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia

Published:2021-05 Issue: Volume:516 Page:157-168
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Zhang Shule,Qiao Yu,Wang Zengmin,Zhuang Jianxin,Sun Yan,Shang Xiaohong,Li Guimei

Funder

Shandong Province Health Department

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference87 articles.

1. Thiamine-responsive megaloblastic anemia;Porter;J. Pediatr.,1969

2. K. Oishi, G.A. Diaz, Thiamine-Responsive Megaloblastic Anemia Syndrome, in: M.P. Adam, H.H. Ardinger, R.A. Pagon, et al. (Eds.), GeneReviews((R)). Seattle (WA): University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved., 1993.

3. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness;Labay;Nat. Genet.,1999

4. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome;Ortigoza-Escobar;Brain,2016

5. Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics, and functional studies;Marce-Grau;J. Inherit. Metab. Dis.,2019

Cited by 6 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. An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment;Italian Journal of Pediatrics;2023-11-30

2. Systematic Review of Treatment of Beta-Cell Monogenic Diabetes;2023-05-12

3. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

4. Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision;Current Diabetes Reports;2022-07-05

5. Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia;Laboratory Medicine;2022-06-10