Slc13a5 | List of Frontiers open access articles

Original Research

Published on 17 Apr 2025

Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

in Genetics of Common and Rare Diseases

Hua He
Lijuan Long
Manling Tang
Qiang Xu
Shengwu Duan
Ge Chen
Yan Zhao
Qiongfang Wu
Jia Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1474390

2,101 views

Original Research

Published on 21 Mar 2023

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

in Neurogenomics

Emily M. Spelbrink
Tanya L. Brown
Elise Brimble
Kirsten A. Blanco
Kimberly L. Nye
Brenda E. Porter

Frontiers in Genetics

doi 10.3389/fgene.2023.1109547

6,275 views
19 citations

Brief Research Report

Published on 27 Feb 2023

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

in Pediatric Neurology

Hanan AlQudairy
Hesham AlDhalaan
Sarah AlRuways
Nouf AlMutairi
Maha AlNakiyah
Reema AlGhofaili
Albandary AlBakheet
Adeeb Alomrani
Omar A. Alharbi
Ehab Tous

Frontiers in Pediatrics

doi 10.3389/fped.2022.1051534

5,815 views
3 citations

Mini Review

Published on 24 May 2017

INDY—A New Link to Metabolic Regulation in Animals and Humans

in Genetics of Aging

Blanka Rogina

Frontiers in Genetics

doi 10.3389/fgene.2017.00066

6,912 views
18 citations

Mini Review

Published on 09 Jun 2015

The role of INDY in metabolism, health and longevity

in Genetics of Aging

Ryan P. Rogers
Blanka Rogina

Frontiers in Genetics

doi 10.3389/fgene.2015.00204

10,407 views
32 citations

Review

Published on 23 Dec 2021

INDY—From Flies to Worms, Mice, Rats, Non-Human Primates, and Humans

in Aging, Metabolism and Redox Biology

Dushyant Mishra
Kavitha Kannan
Kali Meadows
Jacob Macro
Michael Li
Stewart Frankel
Blanka Rogina

Frontiers in Aging

doi 10.3389/fragi.2021.782162

7,578 views
5 citations

Articles

Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

INDY—A New Link to Metabolic Regulation in Animals and Humans

The role of INDY in metabolism, health and longevity

INDY—From Flies to Worms, Mice, Rats, Non-Human Primates, and Humans