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 novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review

2018 ◽  
Vol 39 (10) ◽  
pp. 1697-1703 ◽  
Author(s):  
Yuanfeng Zhang ◽  
Chunmei Wang ◽  
Kunfang Yang ◽  
Simei Wang ◽  
Guoli Tian ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous

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

scholarly journals Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

2018 ◽  
Vol 36 (4) ◽  
pp. 200-202
Author(s):  
Jeng Yuan ◽  
Pi-Shan Sung ◽  
Julia Yu-Yun Lee ◽  
Sheau-Chiou Chao
Keyword(s):  
Case Report ◽  
Cerebrotendinous Xanthomatosis ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous

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

Prurigo pigmentosa as an atypical persistent plaque-like skin rash in adult-onset Still’s disease: case report and literature review

2013 ◽  
Vol 8 (5) ◽  
pp. 521-529 ◽  
Author(s):  
Asha S Muthalaly ◽  
Joshua Bradish ◽  
Roy Sampson ◽  
Steven T Hugenberg ◽  
Dennis C Ang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Skin Rash ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Disease Case ◽  
Adult Onset Still's Disease
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