Redefining infantile-onset multisystem phenotypes of coenzyme Q10-deficiency in the next-generation sequencing era [0.03%]
下一代测序时代辅酶Q10缺乏症的婴儿期多系统表型再定义
Andres Berardo,Catarina M Quinzii
Andres Berardo
Primary coenzyme Q10 (CoQ10) deficiency encompasses a subset of mitochondrial diseases caused by mutations affecting proteins involved in the CoQ10 biosynthetic pathway. One of the most frequent clinical syndromes associated with primary Co...
A review of the pharmacogenomics of buprenorphine for the treatment of opioid use disorder [0.03%]
用于治疗阿片类药物使用障碍的布托啡诺药理基因组学综述
Hemanuel Arroyo Seguí,Kyle Melin,Darlene Santiago Quiñones et al.
Hemanuel Arroyo Seguí et al.
As the opioid epidemic continues to grow across the United States, the number of patients requiring treatment for opioid use disorder continues to climb. Although medication-assisted treatment presents a highly effective tool that can help ...
Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment [0.03%]
线粒体神经胃肠脑肌病的诊断和治疗方案
Bridget E Bax
Bridget E Bax
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation o...
Xiomara Q Rosales,John L P Thompson,Richard Haas et al.
Xiomara Q Rosales et al.
Aim: The North American Mitochondrial Disease Consortium (NAMDC) comprises a network of 17 clinical centers with a mission to conduct translational research on mitochondrial diseases. NAMDC is a part of the Rare Disease C...