Article
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Clinical genetics - 1 Aug 2024
Hwang Narae, Kim Sang-Mi, Kim Young-Gon, Ha Changhee, Lee Jeehun, Choi Byung-Ok, Sung Won Jae, Kim Seung Hyun, Kim Young Mi, Lee Yong-Wha, Kim Jieun, Kim Jong-Won, Jang Ja-Hyun, Lee Jiwon, Park Hyung-Doo
Abstract excerpt
Krabbe disease (KD) is an autosomal recessive neurodegenerative disorder caused by deficiency of the galactocerebrosidase (GALC) due to variants in the GALC gene. Here, we provide the first and the largest comprehensive analysis of clinical and genetic characteristics, and genotype-phenotype correlations of KD in Korean in comparison with other ethnic groups. From June 2010 to June 2023, 10 patients were...
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