Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome-Reference-Cited by-同舟云学术

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Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

Published:2021-11-25 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wu Shijing¹,Yuan Zhisheng¹,Sun Zixi¹,Yao Fengxia²,Sui Ruifang¹^ORCID

Affiliation:

1. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China

2. Medical Research Center, Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62582

Reference23 articles.

1. Thiamine‐responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update;Bergmann A. K.;The Journal of Pediatrics,2009

2. Defects of thiamine transport and metabolism;Brown G.;Journal of Inherited Metabolic Disease,2014

3. Mutations in a new gene encoding a thiamine transporter cause thiamine‐responsive megaloblastic anaemia syndrome;Diaz G. A.;Nature Genetics,1999

4. The gene mutated in thiamine‐responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter;Fleming J. C.;Nature Genetics,1999

5. Pharmacogenomics in diabetes: Outcomes of thiamine therapy in TRMA syndrome;Habeb A. M.;Diabetologia,2018

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