Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine
Author:
Publisher
Informa UK Limited
Subject
Clinical Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/00365518109092023
Reference37 articles.
1. Propionic acidemia in patients with ketotic hyperglycinemia
2. 3-Hydroxypropionate: Significance of -Oxidation of Propionate in Patients with Propionic Acidemia and Methylmalonic Acidemia
3. Isolation and Identification of Methylcitrate, a Major Metabolic Product of Propionate in Patients with Propionic Acidemia
4. BIOTIN-RESPONSIVE PROPIONICACIDÆMIA
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1. Acute heat stress amplifies exercise‐induced metabolomic perturbations and reveals variation in circulating amino acids in endurance‐trained males;Experimental Physiology;2023-01-24
2. Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia;Journal of Inherited Metabolic Disease;2022-11-03
3. Disruption of mitochondrial functions involving mitochondrial permeability transition pore opening caused by maleic acid in rat kidney;Journal of Bioenergetics and Biomembranes;2022-07-29
4. Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia;Science Translational Medicine;2021-09-15
5. Disturbance of bioenergetics and calcium homeostasis provoked by metabolites accumulating in propionic acidemia in heart mitochondria of developing rats;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2020-05
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