Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome-Reference-Cited by-同舟云学术

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Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome

Published:2024-03 Issue:6 Volume:10 Page:e27434
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Norouzi Rostami Fatemeh,Sadeghi Hossein,Hashemi-Gorji Farzad^ORCID,Tehrani Fateh Sahand,Mirfakhraie Reza,Karimzadeh Parvaneh,Davarpanah Milad,Jamshidi Sanaz,Madannejad Rasoul,Moghimi Parinaz^ORCID,Ekrami Mahdis,Miryounesi Mohammad,Ghasemi Mohammad-Reza^ORCID

Publisher

Elsevier BV

Reference20 articles.

1. Whole exome sequencing identifies a novel mutation of TPK1 in a Chinese Family with Recurrent ataxia;Zhu;J. Mol. Neurosci.,2020

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

3. Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome;Li;Eur. J. Med. Genet.,2020

4. Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease;Li;BMC Neurol.,2022

5. Report of the largest Chinese cohort with SLC19A3 gene defect and literature review;Wang;Front. Genet.,2021

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