A Case of Increased C5-OH Acylcarnitine
Author:
Affiliation:
1. Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/62/9/1278/32645523/clinchem1278.pdf
Reference2 articles.
1. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: Insights from the Israel newborn screening program;Rips;J Inherit Metab Dis,2016
2. 3-Methylcrotonyl-CoA carboxylase deficiency: To screen or not to screen?;Wilcken;J Inherit Metab Dis,2016
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1. Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency;Clinica Chimica Acta;2024-06
2. Surgical Repair of Atrial Septal Defect in a Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency;Heart Views;2024-01
3. Direct Analysis of Doping Agents in Raw Urine Using Hydrophobic Paper Spray Mass Spectrometry;Journal of the American Society for Mass Spectrometry;2020-05-01
4. Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency;Turkish Journal of Biochemistry;2019-07-09
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