scholarly journals 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Turkish Child with a Novel HIBCH Gene Mutation and Literature Review

2020 ◽  
Vol 11 (3) ◽  
pp. 170-175
Author(s):  
Mustafa Kılıç ◽  
Fatma Kurt-Çolak
Keyword(s):  
Literature Review ◽  
Gene Mutation ◽  
Turkish Child ◽  
Coa Hydrolase

scholarly journals Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Manuela Quiroga-Carrillo ◽  
Cristian Correa-Arrieta ◽  
Fernando Ortiz-Corredor ◽  
Fernando Suarez-Obando
Keyword(s):  
Physical Activity ◽  
Case Report ◽  
Literature Review ◽  
Point Mutation ◽  
Gene Mutation ◽  
Musculoskeletal Disorder ◽  
Autosomal Dominant ◽  
Point Mutations ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

scholarly journals Multiple gastrointestinal stromal tumors caused by a novel germline KIT gene mutation (Asp820Gly): a case report and literature review

2020 ◽  
Vol 23 (4) ◽  
pp. 760-764 ◽  
Author(s):  
Jun Arima ◽  
Masako Hiramatsu ◽  
Kohei Taniguchi ◽  
Toshihiro Kobayashi ◽  
Ichiro Tsunematsu ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation ◽  
Gastrointestinal Stromal Tumors ◽  
Stromal Tumors ◽  
Kit Gene

scholarly journals A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review

2020 ◽  
Vol 8 ◽  
Author(s):  
Peilin Wu ◽  
Suqing Chen ◽  
Bin Wu ◽  
Junhong Chen ◽  
Ge Lv
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Gene Mutation

Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients

2010 ◽  
Vol 30 (3) ◽  
pp. 249-254 ◽  
Author(s):  
Hyojin Chae ◽  
Joonhong Park ◽  
Myungshin Kim ◽  
Jihyang Lim ◽  
Yonggoo Kim ◽  
...  
Keyword(s):  
Literature Review ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Korean Patients ◽  
Diamond Blackfan Anemia ◽  
Gene Mutation Analysis
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