Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature
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DOI: 10.1002/mgg3.1955
Abstract: Mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) syndrome is one of the most well‐known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two decades of life… read more here.
Keywords: paediatric patients; neurological features; molecular neurological; features melas ... See more keywords
[Management of patients with MELAS syndrome : A case report and general characteristics from an anesthesiological perspective].
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DOI: 10.1007/s00101-020-00793-8
Abstract: BACKGROUND Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare progressive disease with acute neurological episodes caused by a mitochondriopathy. Due to a defect of oxidative phosphorylation in the respiratory chain, there is… read more here.
Keywords: management; melas syndrome; patients melas; case report ... See more keywords
Analytical challenges in the assessment of NO synthesis from L-arginine in the MELAS syndrome.
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DOI: 10.1016/j.ijcard.2016.12.036
Abstract: Article history: Received 29 November 2016 Accepted 16 December 2016 Available online xxxx and of de novo synthesized N2-ADMA. Arg's compartmentalization [5] and concomitant conversion of infused N2-Arg to L-N2homoarginine and N2-guanidinoacetate alter Arg's metabolism… read more here.
Keywords: analytical challenges; challenges assessment; assessment synthesis; melas syndrome ... See more keywords
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.
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DOI: 10.1530/eje-20-0189
Abstract: Objective Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes. Phenotypic variability can be attributed to heteroplasmy along with varying… read more here.
Keywords: melas syndrome; mutation load; load; mitochondrial diabetes ... See more keywords
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
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DOI: 10.3389/fneur.2019.00038
Abstract: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m. 3243A>G mutation in the MT-TL1 mitochondrial DNA gene, resulting in impairment of… read more here.
Keywords: pseudo obstruction; melas syndrome; like episodes; intestinal pseudo ... See more keywords