Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report-Reference-Cited by-同舟云学术

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Published:2018-02-20 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Ullah Muhammad Ikram,Nasir Abdul,Ahmad Arsalan,Harlalka Gaurav Vijay,Ahmad Wasim,Hassan Muhammad Jawad,Baple Emma L.,Crosby Andrew H.,Chioza Barry A.^ORCID

Funder

Medical Research Council

Higher Education Commission, Pakistan

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0532-x.pdf

Reference22 articles.

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2. Chen E, Nyhan WL, Jakobs C, Greco CM, Barkovich AJ, Cox VA, Packman S. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis. 1996;19:335–43.

3. Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RB, Trefz FK, et al. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol. 1992;32:66–71.

4. Barth PG, Wanders RJ, Scholte HR, Abeling N, Jakobs C, Schutgens RB, Vreken P. L-2-hydroxyglutaric aciduria and lactic acidosis. J Inherit Metab Dis. 1998;21:251–4.

5. Hanefeld F, Kruse B, Bruhn H, Frahm J. In vivo proton magnetic resonance spectroscopy of the brain in a patient with L-2-hydroxyglutaric acidemia. Pediatr Res. 1994;35:614–6.

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