A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
http://link.springer.com/article/10.1007/s11011-018-0317-0/fulltext.html
Reference23 articles.
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2. Applegarth DA, Toone JR (2004) Glycine encephalopathy (nonketotic hyperglycinaemia): review and update. J Inherit Metab Dis 27(3):417–422. https://doi.org/10.1023/B:BOLI.0000031222.38328.59
3. Belcastro V, Barbarini M, Barca S, Mauro I (2016) A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. Eur J Paediatr Neurol 20(1):192–195. https://doi.org/10.1016/j.ejpn.2015.08.008
4. Chang Y-T, Lin WD, Chin ZN, Wang CS, Chou IC, Kuo HT, Tsai FJ (2012) Nonketotic hyperglycinemia: a case report and brief review. Biomedicine 2(2):80–82. https://doi.org/10.1016/j.biomed.2012.04.002
5. Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C (2009) Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37(9):e67. https://doi.org/10.1093/nar/gkp215
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