標(biāo)題: Titlebook: Diagnosis and Management of Mitochondrial Disorders; Michelangelo Mancuso,Thomas Klopstock Book 2019 Springer Nature Switzerland AG 2019 M [打印本頁(yè)] 作者: 快樂 時(shí)間: 2025-3-21 18:52
書目名稱Diagnosis and Management of Mitochondrial Disorders影響因子(影響力)
書目名稱Diagnosis and Management of Mitochondrial Disorders影響因子(影響力)學(xué)科排名
書目名稱Diagnosis and Management of Mitochondrial Disorders網(wǎng)絡(luò)公開度
書目名稱Diagnosis and Management of Mitochondrial Disorders網(wǎng)絡(luò)公開度學(xué)科排名
書目名稱Diagnosis and Management of Mitochondrial Disorders被引頻次
書目名稱Diagnosis and Management of Mitochondrial Disorders被引頻次學(xué)科排名
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書目名稱Diagnosis and Management of Mitochondrial Disorders年度引用學(xué)科排名
書目名稱Diagnosis and Management of Mitochondrial Disorders讀者反饋
書目名稱Diagnosis and Management of Mitochondrial Disorders讀者反饋學(xué)科排名
作者: fidelity 時(shí)間: 2025-3-21 20:54 作者: 和平主義 時(shí)間: 2025-3-22 02:14 作者: 諷刺 時(shí)間: 2025-3-22 07:07
Maria Reichenbach,Robert S. Cohene of onset with a subacute and rapidly evolving course, whereas DOA has infantile onset and slow progression. Our understanding of pathogenic mechanisms has dramatically increased in the last decades and has led to the approval of idebenone in LHON, so far (as of 2018) the only approved treatment in作者: 不朽中國(guó) 時(shí)間: 2025-3-22 10:29
Wirkungs- und Forschungsgeschichte,remains firmly within the realms of supportive care and health surveillance. However, advances in genetic diagnosis, a better understanding of the molecular pathophysiological processes at work and increasing interest from the pharmaceutical industry can only augur well for development of an effecti作者: 征稅 時(shí)間: 2025-3-22 16:00 作者: 征稅 時(shí)間: 2025-3-22 20:50
Stuttgart (1869–1891): Kindheit und Jugend, and site-specific point mutations. MNGIE can be readily diagnosed by the clinical phenotype with confirmation by identification of . mutations or by biochemical demonstration of decreased TP activity, elevated plasma thymidine and deoxyuridine, or both. Strategies to restore TP activity via alloge作者: 作嘔 時(shí)間: 2025-3-23 00:13 作者: 干涉 時(shí)間: 2025-3-23 05:04 作者: 機(jī)密 時(shí)間: 2025-3-23 07:37 作者: Veneer 時(shí)間: 2025-3-23 11:38 作者: candle 時(shí)間: 2025-3-23 14:10
Epidemiology of Mitochondrial Disease,g numbers of pathogenic nuclear disease genes. Only recently has it been possible to estimate the prevalence of disease due to mutations of both the nuclear and mitochondrial genomes. To date, the most detailed prevalence figures available report the number of adults suffering from all forms of mito作者: 完全 時(shí)間: 2025-3-23 19:22 作者: 毗鄰 時(shí)間: 2025-3-24 02:15
Leigh Syndrome,remains firmly within the realms of supportive care and health surveillance. However, advances in genetic diagnosis, a better understanding of the molecular pathophysiological processes at work and increasing interest from the pharmaceutical industry can only augur well for development of an effecti作者: chemoprevention 時(shí)間: 2025-3-24 04:12 作者: placebo-effect 時(shí)間: 2025-3-24 07:10
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE),, and site-specific point mutations. MNGIE can be readily diagnosed by the clinical phenotype with confirmation by identification of . mutations or by biochemical demonstration of decreased TP activity, elevated plasma thymidine and deoxyuridine, or both. Strategies to restore TP activity via alloge作者: geometrician 時(shí)間: 2025-3-24 12:41
Diagnostic Approach to Mitochondrial Diseases,enes and overlapping phenotypes with a potentially treatable secondary mitochondrial defect and also facilitates the enrolment of patients into clinical trials which require molecular confirmation of mitochondrial disease. Biochemical investigations remain important for the investigation of cases th作者: flimsy 時(shí)間: 2025-3-24 18:04
Outcome Measures and Quality of Life in Mitochondrial Diseases,heterogeneity, unpredictability of disease progression rate and the spectrum of ages that may be affected. Still, there is a need for further research in the field. The different paradigms of these outcomes may vary in their nature and purpose, but all should agree in the fact that they reflect clin作者: forecast 時(shí)間: 2025-3-24 21:32
Diagnosis and Management of Mitochondrial Disorders作者: 嚴(yán)重傷害 時(shí)間: 2025-3-25 02:01
Diagnosis and Management of Mitochondrial Disorders978-3-030-05517-2作者: Outspoken 時(shí)間: 2025-3-25 06:35 作者: 注射器 時(shí)間: 2025-3-25 07:44
Mattia Algeri M.D.,Franco Locatelli M.D.s associated with mitochondrial cytopathies corresponds to an increasing number of clinical and neuroimaging phenotypes. This chapter describes the main imaging findings of mitochondrial cytopathies in children, providing a rational approach to their differential diagnosis based on multimodal imaging analysis and clinical evaluation.作者: 詼諧 時(shí)間: 2025-3-25 15:13 作者: Flatter 時(shí)間: 2025-3-25 18:37 作者: Indict 時(shí)間: 2025-3-25 22:48
Maria Reichenbach,Robert S. Cohenvivo [2]. Mutations in . are one of the most common causes of mitochondrial disease and responsible for a wide range of phenotypes. Mutations in . are rare. Disease caused by mutations in Twinkle gives a similar spectrum of disease to those caused by POLG and we will discuss them together where this is appropriate.作者: 抗生素 時(shí)間: 2025-3-26 01:27 作者: 整頓 時(shí)間: 2025-3-26 05:23 作者: Inflamed 時(shí)間: 2025-3-26 12:27 作者: lobster 時(shí)間: 2025-3-26 13:34 作者: SHRIK 時(shí)間: 2025-3-26 19:09 作者: indicate 時(shí)間: 2025-3-27 00:52
,Neuroimaging Findings in Primary?Mitochondrial Cytopathies,s associated with mitochondrial cytopathies corresponds to an increasing number of clinical and neuroimaging phenotypes. This chapter describes the main imaging findings of mitochondrial cytopathies in children, providing a rational approach to their differential diagnosis based on multimodal imaging analysis and clinical evaluation.作者: 周興旺 時(shí)間: 2025-3-27 04:51 作者: Predigest 時(shí)間: 2025-3-27 07:58 作者: 期滿 時(shí)間: 2025-3-27 11:42 作者: VOC 時(shí)間: 2025-3-27 15:25
,Poelzig an der Arbeit: Breslau 1904–1916, (MIDD). Recognition of MELAS is critically important to ensure proper long-term surveillance and potential therapies. MELAS leads to overall morbidity and mortality due to recurrent stroke-like episodes, cerebral atrophy, and physical and mental deterioration over time.作者: 新娘 時(shí)間: 2025-3-27 19:29
Maria Reichenbach,Robert S. Cohenm.8361G>A variants. The pathogenesis of the disease is not completely understood. At now we have no specific therapy, but many drugs or cocktails of vitamins and cofactors may be used in the management of clinical manifestations.作者: Directed 時(shí)間: 2025-3-28 00:07 作者: 現(xiàn)存 時(shí)間: 2025-3-28 06:06 作者: PET-scan 時(shí)間: 2025-3-28 09:39 作者: 蒸發(fā) 時(shí)間: 2025-3-28 12:57 作者: 面包屑 時(shí)間: 2025-3-28 17:06 作者: observatory 時(shí)間: 2025-3-28 21:36
Mitochondrial Neurodegenerative Disorders I: Parkinsonism and Cognitive Deficits,sease progression and discuss the data from human post-mortem studies, which provide evidence of mitochondrial dysfunction and molecular changes in mtDNA quality and quantity in idiopathic Parkinson’s disease, primary mitochondrial and .-related disorders. We also discuss the mechanistic insights gained from transgenic animal models.作者: 空氣傳播 時(shí)間: 2025-3-29 02:02
Mitochondrial Heart Involvement,causal therapeutic strategies are still lacking for patients with MID and cardiac involvement. Nevertheless, e.g., device therapies can be particularly helpful (and prolong life) in MID patients with arrhythmias—in case of early and timely diagnosis of the underlying cardiac disease.作者: remission 時(shí)間: 2025-3-29 06:24 作者: neoplasm 時(shí)間: 2025-3-29 10:10 作者: FEIGN 時(shí)間: 2025-3-29 13:00
Mitochondria: Muscle Morphology,hies to indicate that skeletal muscle and brain tissue, due to their high energy demand, are most often involved..Given this background, skeletal muscle tissue is the most useful and extensively used target for morphological investigations. Indeed, skeletal muscle is a post-mitotic terminally differ作者: groggy 時(shí)間: 2025-3-29 17:45
Mitochondrial Disease Genetics,ity, progression, and genetic etiologies. Mitochondria are cellular organelles in which oxidative phosphorylation occurs to generate chemical energy in the form of adenosine triphosphate (ATP). Both nuclear and mitochondrial DNA genomes contribute to approximately 1500 proteins that comprise mitocho作者: laxative 時(shí)間: 2025-3-29 22:02 作者: NOCT 時(shí)間: 2025-3-30 01:29
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS),pical symptoms of short stature, failure to thrive, recurrent headaches and vomiting, stroke-like episodes causing hemiplegia or vision loss, epilepsy, hearing loss, and diabetes. Additional manifestations include other endocrinopathies and cardiac involvement. MELAS is typically caused by a mitocho作者: 精致 時(shí)間: 2025-3-30 05:52 作者: 發(fā)芽 時(shí)間: 2025-3-30 10:29 作者: nettle 時(shí)間: 2025-3-30 13:59
Mitochondrial Optic Neuropathies,o this metabolic insult. Typically mitochondrial optic neuropathies follow a common pattern, with small axons being more prone to degenerate due to their unfavorable metabolic setting. This leads to loss of papillomacular fibers characterized by central vision defect and prevalent temporal pallor at作者: limber 時(shí)間: 2025-3-30 17:37
Mitochondrial Myopathies, Chronic Progressive External Ophthalmoparesis, and Kearns-Sayre Syndrome,ting predominantly, but not exclusively, skeletal muscle. Manifestations lead from isolated mitochondrial myopathy to chronic progressive external ophthalmoparesis and Kearns-Sayre syndrome. In contrast to many other mitochondrial disorders, diagnosis still requires the morphological and genetic wor作者: corporate 時(shí)間: 2025-3-31 00:31 作者: Expressly 時(shí)間: 2025-3-31 04:14 作者: 連詞 時(shí)間: 2025-3-31 05:53
Mitochondrial Depletion Syndromes,r cause of these clinically very heterogeneous diseases is autosomal recessive mutations in at least 15 nuclear genes involved in nuclear-mitochondrial inter-genomic signaling pathways. The phenotypes for these disorders can be quite varied from isolated ophthalmoplegia to multi-system disease. Almo作者: NAVEN 時(shí)間: 2025-3-31 10:47
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE), cytosolic enzyme thymidine phosphorylase (TP). MNGIE is clinically characterized by severe gastrointestinal dysmotility, cachexia, chronic progressive external ophthalmoplegia, sensorimotor peripheral neuropathy, and leukoencephalopathy. The average age at onset is about 18?years old, and the disea作者: LVAD360 時(shí)間: 2025-3-31 15:37 作者: Expand 時(shí)間: 2025-3-31 18:28 作者: 兩棲動(dòng)物 時(shí)間: 2025-4-1 01:16
Mitochondrial Heart Involvement,muscle, and other internal organs. Heart failure (HF) does not only represent one of the major causes of morbidity and mortality in these patients, but the presence of cardiomyopathy also worsens dramatically their prognosis. An early diagnosis of cardiac disease associated with MID is important for作者: neutralize 時(shí)間: 2025-4-1 02:20
Diagnostic Approach to Mitochondrial Diseases,. Over the past years, the development of novel diagnostic techniques and our growing understanding of mitochondrial pathophysiology have altered the clinical diagnostic approach in suspected mitochondrial cases. With the increased availability of next-generation sequencing, including targeted panel作者: 高腳酒杯 時(shí)間: 2025-4-1 09:22
,Neuroimaging Findings in Primary?Mitochondrial Cytopathies,ergy (ATP) production, resulting in peculiar brain imaging findings on MRI. The growing knowledge regarding molecular, biochemical, and genetic defects associated with mitochondrial cytopathies corresponds to an increasing number of clinical and neuroimaging phenotypes. This chapter describes the ma作者: 蒼白 時(shí)間: 2025-4-1 11:10 作者: Canopy 時(shí)間: 2025-4-1 17:14
