A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review

Neurogenetics ◽  
2022 ◽  
Author(s):  
Salvatore Iacono ◽  
Elda Del Giudice ◽  
Alberta Leon ◽  
Vincenzo La Bella ◽  
Rossella Spataro
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Krabbe Disease ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Adult Onset ◽  
Disease Case

A new compound heterozygous mutation in adult-onset Krabbe disease

2020 ◽  
Vol 130 (12) ◽  
pp. 1267-1271 ◽  
Author(s):  
Xianghe Meng ◽  
Yingjiao Li ◽  
Yajun Lian ◽  
Yujuan Li ◽  
Liyuan Du ◽  
...  
Keyword(s):  
Krabbe Disease ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Adult Onset

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review

2020 ◽  
Vol 42 (9) ◽  
pp. 1035-1040
Author(s):  
Minglan Yang ◽  
Ying Dong ◽  
Jianqing Tian ◽  
Li Yan ◽  
Yawen Chen ◽  
...  
Keyword(s):  
Literature Review ◽  
Gitelman Syndrome ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Slc12a3 Gene
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