A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria-Reference-Cited by-同舟云学术

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A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria

Published:2024-07 Issue:3 Volume:142 Page:108495
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Phua Yu Leng,D'Annibale Olivia M.,Karunanidhi Anuradha,Mohsen Al-Walid,Kirmse Brian,Dobrowolski Steven F.,Vockley Jerry

Funder

National Institutes of Health

Children's Hospital of Pittsburgh

Publisher

Elsevier BV

Reference57 articles.

1. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria;Nota;Am. J. Hum. Genet.,2013

2. Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission;Chaouch;J. Neuromuscul. Dis.,2014

3. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants;Pop;J. Inherit. Metab. Dis.,2018

4. Combined D2−/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment;Muhlhausen;J. Inherit. Metab. Dis.,2014

5. Expanding the clinical spectrum of mitochondrial citrate carrier (SLC25A1) deficiency: facial dysmorphism in siblings with epileptic encephalopathy and combined D,L-2-hydroxyglutaric aciduria;Prasun;JIMD Rep.,2015

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