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Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
Open Access
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 Hospital
Ankara, Turkey
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Olgac, A
,
Orgun L Tekin
Orgun L Tekin
Department of Pediatric Neurology, Gazi University Hospital
Ankara, Turkey
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Tekin, Orgun L
,
FS Ezgü
FS Ezgü
Department of Pediatric Metabolism and Nutrition, Gazi University Hospital
Ankara, Turkey
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Ezgü, FS
,
G Biberoǧlu
G Biberoǧlu
Department of Pediatric Metabolism and Nutrition, Gazi University Hospital
Ankara, Turkey
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Biberoǧlu, G
and
L Tümer
L Tümer
Department of Pediatric Metabolism and Nutrition, Gazi University Hospital
Ankara, Turkey
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Tümer, L
Dec 21, 2019
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
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Article Category:
Case Report
Published Online:
Dec 21, 2019
Page range:
93 - 96
DOI:
https://doi.org/10.2478/bjmg-2019-0015
Keywords
Inborn errors of metabolism
,
L-2-hydroxyglutaric aciduria (L2HGA)
,
Seizure
,
Tremor
© 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.
