Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry
Link
http://link.springer.com/content/pdf/10.1007/s11011-020-00554-x.pdf
Reference14 articles.
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2. Boy N, Mühlhausen C, Maier EM, Heringer J et al (2017) Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 40:75–101. https://doi.org/10.1007/s10545-016-9999-9
3. Chen J, Meng CK, Narayan SB, Luan W, Bennett MJ (2009) The use of deconvolution reporting software© and backflush improves the speed and accuracy of data processing for urinary organic acid analysis. Clin Chim Acta 405:53–59. https://doi.org/10.1016/j.cca.2009.04.005
4. Kruthika-Vinod TP, Muntaj S, Devaraju K et al (2017) Genetic screening of selected disease-causing mutations in glutaryl-CoA dehydrogenase gene among indian patients with glutaric aciduria type I. J Pediatr Genet 6:142–148. https://doi.org/10.1055/s-0037-1599202
5. Kurkina MV, Baydakova GV, Zakharova EY (2016) Molecular and biochemical characteristics of the isolated methylmalonic aciduria in Russian patients. Med Genet 9:17–28
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