Relationship between elevated arginine and pathophysiology of progressive disease in arginase 1 deficiency [0.03%]
鸟苷酸环化酶 agonist 纠正瓜氨酸血症Ⅰ型的血管病变和心功能不全
Mattias Rudebeck,Spyros Batzios,Leslie Sloan et al.
Mattias Rudebeck et al.
Background: Arginase 1 deficiency (ARG1-D; OMIM #207800) is a rare urea cycle disorder caused by loss of arginase activity, preventing the hydrolysis of arginine to ornithine and urea. The resulting hyperargininaemia lead...
Hydroxocobalamin monotherapy in patients with cblC deficiency: Biochemical analysis and clinical observations [0.03%]
cblC缺陷患者羟钴胺单药治疗的生化分析及临床观察
Si Ding,Lili Hao,Yi Ding et al.
Si Ding et al.
Background: Cobalamin C (cblC) deficiency is the most frequent disease involving intracellular cobalamin metabolism. This study evaluates the response of hydroxocobalamin (OHCbl) monotherapy in patients with stable cblC d...
L-citrulline treatment of nitric oxide deficiency in MELAS a phase I dose-finding and safety study [0.03%]
用L-瓜氨酸治疗MELAS患者的内皮硝酸氧化物缺乏：一项剂量探索和安全性研究
Mohammed Almannai,Jimmy Duong,Ayman W El-Hattab et al.
Mohammed Almannai et al.
There is evidence that nitric oxide deficiency occurs in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and may result in impaired blood perfusion in small blood vessels, contributing to stroke-like episodes...
Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature [0.03%]
线粒体复合物V缺陷的多代遗传由于ATP5F1A基因c.620G>A（p.Arg207His）致病突变所致：一例家系及文献综述
Aaron Williams,Elizabeth Mizerik,Hsiang-Chun Chang et al.
Aaron Williams et al.
ATP5F1A encodes part of the catalytic core of mitochondrial complex V, which is responsible for the majority of ATP production. Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A; MIM#620358) is due to monoallelic pathogenic varia...
European PKU guidelines at a glance: infographics summarising key recommendations [0.03%]
一目了然的欧洲PKU指南：概述关键建议的信息图
A M J van Wegberg,A MacDonald,M Giżewska et al.
A M J van Wegberg et al.
Practice Guideline
Molecular genetics and metabolism. 2026 Jul 22;149(1-2):110221. DOI:10.1016/j.ymgme.2026.110221 2026
Gut microbiota alterations in individuals with mitochondrial disease caused by the m.3243A >G mutation [0.03%]
线粒体疾病m.3243A>G突变个体肠道菌群的改变
Dave G J de Bruijn,Alem Gusinac,Thomas H A Ederveen et al.
Dave G J de Bruijn et al.
People with mitochondrial disease (MD) associated with the m.3243 A > G mutation often experience gastrointestinal complaints and dysmotility, suggesting dysbiosis of the gut microbiome. A common phenotype of the m.3243 A > G mutation is Ma...
TTC19-related mitochondrial disease: A characteristic neuroimaging signature? [0.03%]
TTC19相关性线粒体疾病：具有特征性的神经影像学特点吗？
Claire-Marine Bérat,Giulia Barcia,Pauline Gaignard et al.
Claire-Marine Bérat et al.
Background: TTC19-related mitochondrial disease is a rare mitochondrial disorder of respiratory chain Complex III (CIII), typically associated with neurodegeneration and Leigh syndrome. However, its clinical presentation ...
Endogenous fructose production in patients and mice with aldolase B deficiency [0.03%]
丙酮酸激酶缺乏症患者和小鼠体内的果糖内生合成作用
Amée M Buziau,Nynke Simons,Dean R Tolan et al.
Amée M Buziau et al.
Background: Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by aldolase B deficiency (ALDOB). Patients with HFI require lifelong adherence to a fructose-restricted diet. However, des...
Acute hepatic porphyrias in Mexico: A tale of challenges and achievements facing rare diseases [0.03%]
墨西哥的急性肝性卟啉病：罕见疾病面临的挑战与成就的故事
Susana Monroy,Jose Francisco González-Zamora
Susana Monroy
Worldwide, patients with porphyrias face critical delays in diagnosis. In Mexico this situation is no exception and, due to the characteristics of the local health system, population distribution and lack of access to health services and sp...