Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria
Author:
Funder
National Key R&D Program of China
Sanming Project of Medicine in Shenzhen
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0675-9.pdf
Reference13 articles.
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2. Balaji P, Viswanathan V, Chellathurai A, Panigrahi D. An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria. Ann Indian Acad Neurol. 2014;17(1):97–9.
3. Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet. 2004;13(22):2803–11.
4. Linster CL, Van Schaftingen E, Hanson AD. Metabolite damage and its repair or pre-emption. Nat Chem Biol. 2013;9(2):72–80.
5. Kuhara T. Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl. 2001;758(1):3–25.
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