A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease

Gene - Tập 517 Số 1 - Trang 125-127 - 2013
Fatih Kardaş1, Aslı Subasioglu Uzak2, Mohammad Arif Hossain3, Norio Sakai3, Mehmet Canpolat4, Ali Yıkılmaz5
1Department of Pediatric Nutrition and Metabolism, Erciyes University School of Medicine, Kayseri 38039, Turkey.
2Department of Medical Genetics, Erciyes University School of Medicine, Kayseri, 38039, Turkey
3Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan
4Department of Pediatric Neurology, Erciyes University School of Medicine, Kayseri, 38039, Turkey
5Department of Pediatric Radiology, Erciyes University School of Medicine, Kayseri, 38039, Turkey

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