A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease

Author:

Piri-Moghadam Hamed,Miller Alan,Pronger Debra,Vicente Faye,Charrow Joel,Haymond Shannon,Lin David C.

Publisher

Elsevier BV

Subject

Clinical Biochemistry,Medical Laboratory Technology,Spectroscopy,Microbiology

Reference51 articles.

1. Development and validation of LC-MS/MS method for determination of branched chain amino acids and α-keto acids in human plasma;Sargsyan;Int. J. Mass Spectrom.,2020

2. Association of branched-chain amino acids with coronary artery disease: A matched-pair case-control study;Yang;Nutrition, Metabolism and Cardiovascular Diseases,2015

3. Serum branched-chain amino acids are associated with leukocyte telomere length and frailty based on residents from Guangxi longevity county;Zhang;Sci. Rep.,2020

4. Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit;Georgiou;Genet. Test. Mol. Biomarkers,2009

5. Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes;Strauss;Mol. Genet. Metab.,2020

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