The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 4
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
Berrak Bilginer Gürbüz 1 ,Didem Yücel Yılmaz 2 ,Rıza Köksal Özgül 2 ,Can Koşukcu 3 ,Ali Dursun 1 ,Hatice Serap Sivri 1 ,Turgay Coşkun 1 ,Ayşegül Tokatlı 1
1 Department of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara
2 Department of Pediatric Metabolism, Hacettepe University Institute of Child Health, Ankara
3 Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey
DOI : 10.24953/turkjped.2021.04.017 Keywords :
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