Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome-Reference-Cited by-同舟云学术

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Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome

Published:2020-10 Issue:10 Volume:63 Page:104003
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Li Dongxiao,Song Jinqing,Li Xiyuan,Liu Yi,Dong Hui,Kang Lulu,Liu Yupeng,Zhang Yao,Jin Ying,Guan Hanzhou,Zhou Chongchen,Yang Yanling

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference25 articles.

1. Early infantile leigh-like SLC19A3 gene defects have a poor prognosis: report and review;Alfadhel;J. Cent. Nerv. Syst. Dis.,2017

2. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations;Banka;Mol. Genet. Metabol.,2014

3. Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4;Bottega;J. Hum. Genet.,2019

4. Defects of thiamine transport and metabolism;Brown;J. Inherit. Metab. Dis.,2014

5. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations;Debs;Arch. Neurol.,2010

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1. SLC25A19 is required for NADH homeostasis and mitochondrial respiration;Free Radical Biology and Medicine;2024-09

2. Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature;Clinical Dysmorphology;2024-07-16

3. Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome;Heliyon;2024-03

4. Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review;Frontiers in Pediatrics;2023-08-09

5. Experimental pharmacology: Targeting metabolic pathways;International Review of Neurobiology;2023

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