VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype-Reference-Cited by-同舟云学术

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Published:2019-05-07 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Begliuomini Chiara^ORCID,Magli Giorgio,Di Rocco Maja,Santorelli Filippo M.,Cassandrini Denise,Nesti Claudia,Deodato Federica,Diodato Daria,Casellato Susanna,Simula Delia M.,Dessì Veronica,Eusebi Anna,Carta Alessandra,Sotgiu Stefano

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0798-7.pdf

Reference13 articles.

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2. Baertling F, Alhaddad B, Seibt A, et al. Neonatal encephalocardiomyopathy caused by mutations in VARS2. Metab Brain Dis. 2017;32:267–70. https://doi.org/10.1007/s11011-016-9890-2 .

3. Bruni F, Di Meo I, Bellacchio E, et al. Clinical, biochemical, and genetic features associated with VARS2 related mitochondrial disease. Hum Mutat. 2018;39:563–78. https://doi.org/10.1002/humu.23398 .

4. Danhauser K, Smeitink JA, Freisinger P, et al. Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. J Inherit Metab Dis. 2015;38:467–75. https://doi.org/10.1007/s10545-014-9796-2 .

5. De Michele G, Sorrentino P, Nesti C, et al. Reversible valproate-induced subacute encephalopathy associated with a MT-ATP8 variant in the mitochondrial genome. Front Neurol. 2018;9:728. https://doi.org/10.3389/fneur.2018.00728 .

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