Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy [0.03%]
基因替代疗法治疗的Ia型糖原贮积症犬模型的长期并发症研究
Elizabeth D Brooks,Dustin J Landau,Jeffrey I Everitt et al.
Elizabeth D Brooks et al.
Background: Glycogen storage disease type Ia (GSD Ia) in dogs closely resembles human GSD Ia. Untreated patients with GSD Ia develop complications associated with glucose-6-phosphatase (G6Pase) deficiency. Survival of hum...
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins [0.03%]
马卡德尔病杂合子的表型表现：神话还是现实-他汀类药物的作用纠正：%u3002
Judit Núñez-Manchón,Alfonsina Ballester-Lopez,Emma Koehorst et al.
Judit Núñez-Manchón et al.
Unfortunately the name of one of the authors was spelled incorrectly in the published original article. The correct name is Alejandro Santos-Lozano. The original article got updated.
Published Erratum
Journal of inherited metabolic disease. 2018 Nov;41(6):1295. DOI:10.1007/s10545-018-0236-6 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop [0.03%]
儿童线粒体疾病预后的评估指标：来自国际德尔菲会议的未来研究共识建议
Saskia Koene,Lara van Bon,Enrico Bertini et al.
Saskia Koene et al.
Although there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effecti...
Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle [0.03%]
从突触前的角度探讨神经递质释放障碍的临床和病理生理学意义-聚焦突触小泡
Elisenda Cortès-Saladelafont,Noa Lipstein,Àngels García-Cazorla
Elisenda Cortès-Saladelafont
The aim of this report is to present a tentative clinical and pathophysiological approach to diseases affecting the neuronal presynaptic terminal, with a major focus on synaptic vesicles (SVs). Diseases are classified depending on which ste...
Alba Tristán-Noguero,Àngels García-Cazorla
Alba Tristán-Noguero
To date, inborn errors of neurotransmitters have been defined based on the classic concept of inborn error of metabolism (IEM), and they include defects in synthesis, catabolism, and transport pathways. However, the omics era is bringing in...
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology [0.03%]
细胞神经代谢学：试图连接细胞生物学和神经病学中的代谢作用
Àngels García-Cazorla,Jean-Marie Saudubray
Àngels García-Cazorla
It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is i...
Transcranial electrical stimulation (tES) mechanisms and its effects on cortical excitability and connectivity [0.03%]
经颅电刺激(tES)的作用机制及其对皮层兴奋性和连接性的影响
Thomas Reed,Roi Cohen Kadosh
Thomas Reed
In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation ...
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolism [0.03%]
诱导多能干细胞(iPSCs)作为研究先天性代谢错误中遗传缺陷的模型
Sabine Jung-Klawitter,Thomas Opladen
Sabine Jung-Klawitter
The ability to reprogram somatic cells to induced pluripotent stem cells (iPSCs) has revolutionized the way of modeling human disease. Especially for the modeling of rare human monogenetic diseases with limited numbers of patients available...
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology [0.03%]
脑室内给药伊杜舒凡贝酶替代治疗黏多糖贮积症Ⅱ型小鼠模型的有效性：脑脊液中的硫酸肝素作为神经病理学的临床生物标志物
Young Bae Sohn,Ah-Ra Ko,Mi-Ran Seong et al.
Young Bae Sohn et al.
Mucopolysaccharidosis II (MPS II) is caused by a deficiency of iduronate-2-sulfatase that results in accumulation of glycosaminoglycans (GAG), including heparan sulfate (HS), which is considered to contribute to neuropathology. We examined ...
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience [0.03%]
线粒体病患者的脑脊液单胺、蝶呤和叶酸：系统评价和医院经验
Marta Batllori,Marta Molero-Luis,Aida Ormazabal et al.
Marta Batllori et al.
Mitochondrial diseases are a group of genetic disorders leading to the dysfunction of mitochondrial energy metabolism pathways. We aimed to assess the clinical phenotype and the biochemical cerebrospinal fluid (CSF) biogenic amine profiles ...