scholarly journals Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

2021 ◽  
Author(s):  
Jan Papez ◽  
Jiri Starha ◽  
Katerina Slaba ◽  
Jaroslav A Hubacek ◽  
Jakub Pecl ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutations ◽  
Trpm6 Gene

scholarly journals A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene

2016 ◽  
Vol 36 (3) ◽  
pp. 304-309 ◽  
Author(s):  
Wojciech Wolyniec ◽  
Sonia Kaniuka- Jakubowska ◽  
Mato Nagel ◽  
Zuzanna Wolyniec ◽  
Lukasz Obolonczyk ◽  
...  
Keyword(s):  
Case Report ◽  
Gitelman Syndrome ◽  
Novel Mutations ◽  
Slc12a3 Gene

scholarly journals Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid

2020 ◽  
Vol 7 ◽  
pp. 2329048X2096788 ◽  
Author(s):  
Jennifer Bennett ◽  
Christy Gilkes ◽  
Karin Klassen ◽  
Marina Kerr ◽  
Aneal Khan
Keyword(s):  
Valproic Acid ◽  
Case Report ◽  
Glutamine Synthetase ◽  
Negative Correlation ◽  
Seizure Control ◽  
Novel Mutations ◽  
Strong Negative Correlation ◽  
Acid Therapy ◽  
Plasma Ammonia ◽  
Hyperammonemic Encephalopathy

This case report describes 2 siblings with myoclonic epilepsy who had novel mutations in the glutamine synthetase ( GLUL) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn). Valproic acid improved seizure control, but was associated with hyperammonemic encephalopathy. Addition of carglumic acid reduced ammonia levels but drug coverage was declined. We therefore designed a protocol to measure the reduction in plasma ammonia in response to carglumic acid therapy. After the first dose of carglumic acid, Patient 1 showed a reduction in plasma ammonia levels within 3 hours, from 114 umol/L to 68 umol/L (reference 12-47 umol/L), and Patient 2 from 108 umol/L to 80 umol/L, which was sustained over a 2 week period. Overall, there was a strong negative correlation between plasma ammonia levels and carglumic acid levels (r = −0.86, p = 0.0013), and recurrence of hyperammonemic encephalopathy was not observed while the patients were taking carglumic acid.

scholarly journals Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Shuiyan Wu ◽  
Zhenjiang Bai ◽  
Xingqiang Dong ◽  
Daoping Yang ◽  
Hongmei Chen ◽  
...  
Keyword(s):  
Case Report ◽  
Chinese Family ◽  
Novel Mutations

scholarly journals Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

2020 ◽  
Vol 35 (1) ◽  
pp. e93-e93 ◽  
Author(s):  
Majid Zaki-Dizaji ◽  
Mohammad Tajdini ◽  
Fatemeh Kiaee ◽  
Hossein Shojaaldini ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Case Report ◽  
Ataxia Telangiectasia ◽  
Novel Mutations
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