Assay of methylmalonyl CoA mutase with high-performance liquid chromatography
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference12 articles.
1. Methylmalonic acidemia. An inborn error of metabolism leading to chronic metabolic acidosis;Oberholzer;Arch Dis Child,1967
2. Congenital methylmalonic acidemia: enzymatic evidence for two forms of disease;Morrow,1969
3. Vitamin B12 dependent methylmalonic acidemia: defective B12 metabolism in cultured fibroblasts;Rosenberg;Biochem Biophys Res Commun,1969
4. Methylmalonyl CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia;Narisawa;Tohoku J Exp Med,1977
5. Acute neonatal nonketotic hyperglycinemia: Normal propionate and methylmalonate metabolism;Baumgartner;Pediatr Res,1975
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1. Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia;World Journal of Pediatrics;2017-01-19
2. Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry;Analytical and Bioanalytical Chemistry;2015-05-28
3. Correction of Methylmalonic AciduriaIn VivoUsing a Codon-Optimized Lentiviral Vector;Human Gene Therapy;2014-06
4. Optimization and validation of a reversed-phase high performance liquid chromatography method for the measurement of bovine liver methylmalonyl-coenzyme a mutase activity;BMC Biochemistry;2013
5. Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia;Molecular Genetics and Metabolism;2012-08
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