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Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
Open Access
A novel mutation in a newborn baby leading to glycogen storage disease type Ia
S Dorum
S Dorum
Department of Pediatrics, Division of Metabolism, Bursa Yuksek Ihtisas Training and Research Hospital
Bursa, Turkey
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Dorum, S
and
O Gorukmez
O Gorukmez
Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital
Bursa, Turkey
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Gorukmez, O
Dec 31, 2018
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
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Article Category:
Case Report
Published Online:
Dec 31, 2018
Page range:
55 - 57
DOI:
https://doi.org/10.2478/bjmg-2018-0018
Keywords
Glycogen storage disease type Ia (GSD1A)
,
Novel mutation
,
von Gierke disease
© 2018 Dorum S, Gorukmez O, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
