scholarly journals Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Miaojuan Wu ◽  
Wenqi Gao ◽  
Zhifang Deng ◽  
Zhisheng Liu ◽  
Jiehui Ma ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Case Report ◽  
Mitochondrial Encephalopathy

scholarly journals Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Renela Gambito ◽  
Michael Chan ◽  
Mohamed Sheta ◽  
Precious Ramirez-Arao ◽  
Harmeet Gurm ◽  
...  
Keyword(s):  
Risk Factors ◽  
Enzyme Activity ◽  
Case Report ◽  
Gestational Diabetes ◽  
Diabetes Insipidus ◽  
Clinical Setting ◽  
Hellp Syndrome ◽  
High Index ◽  
High Index Of Suspicion ◽  
Twin Pregnancies

Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in a correct clinical setting especially in the presence of other risk factors such as preeclampsia, HELLP syndrome, and twin pregnancies. We are presenting a case of gestational diabetes insipidus in a patient with HELLP syndrome. The newborn in this case also had hypernatremia thereby raising possibilities of vasopressinase crossing the placenta.

scholarly journals Case report: is low α-Gal enzyme activity suffcient to establish the diagnosis of Fabry disease?

2017 ◽  
Vol 39 (3) ◽  
Author(s):  
Gilson Biagini ◽  
Ana Clara Simões Flórido Almeida ◽  
Tammy Vernalha Rocha Almeida ◽  
Cassiano Augusto Braga Silva ◽  
Bruna Fernanda de Castro ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Case Report ◽  
Fabry Disease
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