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A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria Cover

A 7-year-old boy with hand tremors and a novel mutation for L-2-hydroxyglutaric aciduria

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
By: A Olgac,  Orgun L Tekin,  FS Ezgü,  G Biberoǧlu and  L Tümer  
Open Access
|Dec 2019

Figures & Tables

Figure 1

(a) Subcortical white matter hyperintensity on T2 weighted imaging; (b) bilateral nuclei caudatus and putamen hyperintensity on T2 weighted imaging; (c) bilateral dentate nuclei hyperintensity on T2 weighted imaging.
(a) Subcortical white matter hyperintensity on T2 weighted imaging; (b) bilateral nuclei caudatus and putamen hyperintensity on T2 weighted imaging; (c) bilateral dentate nuclei hyperintensity on T2 weighted imaging.
DOI: https://doi.org/10.2478/bjmg-2019-0015 | Journal eISSN: 2199-5761
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Language: English
Page range: 93 - 96
Published on: Dec 21, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Inborn errors of metabolism,
L-2-hydroxyglutaric aciduria (L2HGA),
Seizure,
Tremor
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 A Olgac, Orgun L Tekin, FS Ezgü, G Biberoǧlu, L Tümer, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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