Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference17 articles.
1. The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric acidemia;Tanaka;J Biol Chem,1967
2. Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack;Shigematsu;Pediatr Res,1982
3. Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine;Chalmers;Pediatr Res,1984
4. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening;Ensenauer;Am J Hum Genet,2004
5. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles;Rashed;Clin Chem,1997
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