The future of mitochondrial medicine requires both lumping and splitting-Reference-Cited by-同舟云学术

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The future of mitochondrial medicine requires both lumping and splitting

Published:2024-08 Issue:4 Volume:142 Page:108536
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ganetzky Rebecca D.

Publisher

Elsevier BV

Reference6 articles.

1. Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population;Bernhardt;Mol. Genet. Metab.,2024

2. ECHS1 disease in two unrelated families of Samoan descent: common variant - rare disorder;Simon;Am. J. Med. Genet. A,2021

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

4. A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria;Phua;Mol. Genet. Metab.,2024

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

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