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1.
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.
Mol Genet Metab
; 142(3): 108495, 2024 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38772223
2.
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 140(3): 107689, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37660571
3.
Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.
J Inherit Metab Dis
; 45(3): 529-540, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35218577
4.
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
Mol Genet Metab
; 134(1-2): 29-36, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34535384
5.
A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.
bioRxiv
; 2023 Feb 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36778323
6.
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
Cells
; 11(17)2022 08 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36078043
7.
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.
Mol Genet Metab Rep
; 33: 100932, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36338154
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