Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts
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A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case reportWhen should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS).Diagnosis and management of MELAS.Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.Stroke in children: genetic and metabolic issues.Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.Stroke genomics: approaches to identify, validate, and understand ischemic stroke gene expression.The neuro-ophthalmology of mitochondrial diseaseTissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.Neuroimaging of mitochondrial disease.Glucose metabolism derangements in adults with the MELAS m.3243A>G mutationSpeech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndromeNatural history of MELAS associated with mitochondrial DNA m.3243A>G genotypeWolff-Parkinson-white syndrome in a patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndromeMaternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.Extraocular mitochondrial myopathies and their differential diagnoses.Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.Mitochondrial disease in childhood: mtDNA encoded.Mitochondrial biogenesis: a therapeutic target for neurodevelopmental disorders and neurodegenerative diseasesA Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome with Intracardiac Thrombus [corrected]Atrazine exposure causes mitochondrial toxicity in liver and muscle cell lines.Audiologic and genetic features of the A3243G mtDNA mutationConcentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.Inherited metabolic disorders and cerebral infarction.Unilateral brain oedema related to focal status epilepticusCerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers.Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.Mitochondrial diseases and epilepsy.Renal manifestations of genetic mitochondrial disease.Ophthalmic manifestations of inherited neurodegenerative disorders.Imaging of MELAS.Muco-cutaneous retinoid-effects and facial erythema related to the novel triazole antifungal agent voriconazole.Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.Isolated cytochrome c oxidase deficiency as a cause of MELASPulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).
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P2860
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@ast
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@en
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@nl
type
label
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@ast
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@en
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@nl
prefLabel
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@ast
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@en
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@nl
P2860
P1476
Mitochondrial myopathy, enceph ...... odes (MELAS): current concepts
@en
P2093
S G Pavlakis
P2860
P356
10.1177/088307389400900102
P407
P577
1994-01-01T00:00:00Z