Asparagine Synthetase deficiency-report of a novel mutation and review of literature-Reference-Cited by-同舟云学术

Asparagine Synthetase deficiency-report of a novel mutation and review of literature

Published:2017-08-03 Issue:6 Volume:32 Page:1889-1900
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Gupta Neerja,Tewari Vishal Vishnu,Kumar Manoj,Langeh Nitika,Gupta Aditi,Mishra Pallavi,Kaur Punit,Ramprasad Vedam,Murugan Sakthivel,Kumar Reema,Jana Manisha,Kabra Madhulika

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-0073-6/fulltext.html

Reference43 articles.

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2. Back SA, Plawner LL (2012) Congenital malformations of the central nervous system. In: Gleason CA, Devaskar SU (ed) Avery’s diseases of the newborn, 9th edn. Philadelphia, pp 864–866

3. Banks JL, Beard HS, Cao Y, Cho AE, Damm W, Farid R, Felts AK, Halgren TA, Mainz DT, Maple JR, Murphy R, Philipp DM, Repasky MP, Zhang LY, Berne BJ, Friesner RA, Gallicchio E, Levy RM (2005) Integrated modeling program, applied chemical theory (IMPACT). J Comput Chem 26:1752–1780

4. Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, Vuillaumier-Barrot S, Lefeber DJ, Guerrini R, CDG Group (2016) Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Dev Med Child Neurol 58(10):1085–1091

5. Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L (2015) Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis 30(3):687–694

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