Organic Acids
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-67727-5_4
Reference30 articles.
1. Baric I, Wagner L, Feyh P, et al. Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis. 1999;22(8):867–82.
2. Blom HJ, van Rooij A, Hogeveen M. A simple high-throughput method for the determination of plasma methylmalonic acid by liquid chromatography-tandem mass spectrometry. Clin Chem Lab Med. 2007;45:645–50.
3. Busquets C, Merinero B, Christensen E, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res. 2000;48(3):315–22.
4. Duran M, Walther FJ, Bruinvis L, Wadman SK. The urinary excretion of ethylmalonic acid: what level requires further attention? Biochem Med. 1983;29:171–5.
5. Garcia-Villoria J, Navarro-Sastre A, Fons C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MA, González I, Hernández-Gonzalez A, Fernández C, Campistol J, Delpiccolo C, Cortés N, Messeguer A, Briones P, Ribes A. Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clin Biochem. 2009;42(1–2):27–33.
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