Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing-Reference-Cited by-同舟云学术

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

Published:2014-01-11 Issue:1 Volume:29 Page:211-213
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Ezgu Fatih,Çiftci Bahattin,Topçu Burcu,Adıyaman Gülcan,Gökmenoğlu Hatice,Küçükçongar Aynur,Kasapkara Çiğdem,Biberoğlu Gürsel,Tümer Leyla,Hasanoğlu Alev

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-014-9482-y.pdf

Reference9 articles.

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3. Katsanis SH, Katsanis N (2013) Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 14:415–426

4. Lamperti C, Fang M, Invernizzi F et al (2012) A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 107:403–408

5. Merriman B, Ion Torrent R&D Team, Rothberg JM (2012) Progress in ion torrent semiconductor chip based sequencing. Electrophoresis 33:3397–3417

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1. Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature;Molecular Genetics and Metabolism Reports;2023-03

2. Inborn Errors of Metabolism;Advances in Clinical Chemistry;2016

3. Recent advances in the molecular diagnosis of inborn errors of metabolism;Clinical Biochemistry;2014-06