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

A Olgac

A Olgac

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Olgac, A
, 
Orgun L Tekin

Orgun L Tekin

Department of Pediatric Neurology, Gazi University HospitalAnkara, Turkey
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Tekin, Orgun L
, 
FS Ezgü

FS Ezgü

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Ezgü, FS
, 
G Biberoǧlu

G Biberoǧlu

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Biberoǧlu, G
 et 
L Tümer

L Tümer

Department of Pediatric Metabolism and Nutrition, Gazi University HospitalAnkara, Turkey
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Tümer, L
  
21 déc. 2019
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Catégorie d'article: Case Report
Publié en ligne: 21 déc. 2019
Pages: 93 - 96
DOI: https://doi.org/10.2478/bjmg-2019-0015
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© 2019 Olgac A, Tekin Orgun L, Ezgü FS, Biberoǧlu G, Tümer L, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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.
Langue:
Anglais
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2 fois par an
Sujets de la revue:
Médecine, Sciences médicales de base, Sciences médicales de base, autres
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