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Page 1
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
Genes (Basel). 2022 Sep 15;13(9):1655. doi: 10.3390/genes13091655.
Genes (Basel). 2022.
PMID: 36140822
Free PMC article.
Review.
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system.
Spelbrink EM, Brown TL, Brimble E, Blanco KA, Nye KL, Porter BE.
Spelbrink EM, et al. Among authors: nye kl.
Front Genet. 2023 Mar 21;14:1109547. doi: 10.3389/fgene.2023.1109547. eCollection 2023.
Front Genet. 2023.
PMID: 37025451
Free PMC article.
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Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.
Yang QZ, Spelbrink EM, Nye KL, Hsu ER, Porter BE.
Yang QZ, et al. Among authors: nye kl.
Child Neurol Open. 2020 Jun 8;7:2329048X20931361. doi: 10.1177/2329048X20931361. eCollection 2020 Jan-Dec.
Child Neurol Open. 2020.
PMID: 32551328
Free PMC article.
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Growth and Overall Health of Patients with SLC13A5 Citrate Transporter Disorder.
Brown TL, Nye KL, Porter BE.
Brown TL, et al. Among authors: nye kl.
Metabolites. 2021 Oct 29;11(11):746. doi: 10.3390/metabo11110746.
Metabolites. 2021.
PMID: 34822404
Free PMC article.
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