FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2613370009> ?p ?o ?g. }

• W2613370009 endingPage "361" @default.
• W2613370009 startingPage "357" @default.
• W2613370009 abstract "Abstract Introduction MELAS syndrome – myopathy, encephalopathy, lactic acidosis and stroke-like episodes – is a maternally-inherited mitochondrial cytopathy related to several mitochondrial DNA mutations, with the A3243G mutation in tRNALeu gene being the most frequent of them. Patients and methods Apart from its typical symptomatology, patients usually exhibit a maternally-inherited history of neurosensory deafness and insulin-dependent type 2 diabetes mellitus (T2DM). Recent studies have shown that few patients carrying a A3243G mutation also suffer from renal dysfunction, usually in form of focal segmental glomerulosclerosis (FSGS). Results In this study we examine kidney involvement in 2 unrelated patients with a A3243G mutation by genetic testing. Both have a maternally-inherited neurosensory deafness and insulin-dependent T2DM. A renal biopsy was performed in both patients. One patient developed nephrotic proteinuria and renal insufficiency, with FSGS findings being observed in the kidney biopsy, whereas the other suffered from mild proteinuria and renal insufficiency, with non-specific glomerular changes. Conclusion The presence of FSGS or other kidney involvement accompanied by hereditary neurosensory deafness and T2DM could be suggestive of a A3243G tRNALeu mutation and should prompt a genetic testing and an evaluation of potential extrarenal involvement." @default.
• W2613370009 created "2017-05-19" @default.
• W2613370009 creator A5015170887 @default.
• W2613370009 creator A5025718532 @default.
• W2613370009 creator A5040901658 @default.
• W2613370009 creator A5041792199 @default.
• W2613370009 creator A5055078866 @default.
• W2613370009 creator A5071817877 @default.
• W2613370009 date "2017-04-01" @default.
• W2613370009 modified "2023-10-18" @default.
• W2613370009 title "Kidney involvement in MELAS syndrome: Description of 2 cases" @default.
• W2613370009 cites W1965598751 @default.
• W2613370009 cites W1967511612 @default.
• W2613370009 cites W1977138207 @default.
• W2613370009 cites W1981436529 @default.
• W2613370009 cites W1983911032 @default.
• W2613370009 cites W1993764537 @default.
• W2613370009 cites W1998107356 @default.
• W2613370009 cites W2000125635 @default.
• W2613370009 cites W2024530489 @default.
• W2613370009 cites W2025096753 @default.
• W2613370009 cites W2025237598 @default.
• W2613370009 cites W2034247355 @default.
• W2613370009 cites W2035934636 @default.
• W2613370009 cites W2042403056 @default.
• W2613370009 cites W2050254109 @default.
• W2613370009 cites W2053204749 @default.
• W2613370009 cites W2059978338 @default.
• W2613370009 cites W2068469769 @default.
• W2613370009 cites W2077203911 @default.
• W2613370009 cites W2077972262 @default.
• W2613370009 cites W2083274383 @default.
• W2613370009 cites W2088859461 @default.
• W2613370009 cites W2095482140 @default.
• W2613370009 cites W2096001606 @default.
• W2613370009 cites W2126858699 @default.
• W2613370009 cites W2143431014 @default.
• W2613370009 cites W2154020172 @default.
• W2613370009 cites W2169961985 @default.
• W2613370009 doi "https://doi.org/10.1016/j.medcle.2017.04.002" @default.
• W2613370009 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28283275" @default.
• W2613370009 hasPublicationYear "2017" @default.
• W2613370009 type Work @default.
• W2613370009 sameAs 2613370009 @default.
• W2613370009 citedByCount "4" @default.
• W2613370009 countsByYear W26133700092018 @default.
• W2613370009 countsByYear W26133700092019 @default.
• W2613370009 countsByYear W26133700092022 @default.
• W2613370009 crossrefType "journal-article" @default.
• W2613370009 hasAuthorship W2613370009A5015170887 @default.
• W2613370009 hasAuthorship W2613370009A5025718532 @default.
• W2613370009 hasAuthorship W2613370009A5040901658 @default.
• W2613370009 hasAuthorship W2613370009A5041792199 @default.
• W2613370009 hasAuthorship W2613370009A5055078866 @default.
• W2613370009 hasAuthorship W2613370009A5071817877 @default.
• W2613370009 hasConcept C104317684 @default.
• W2613370009 hasConcept C126322002 @default.
• W2613370009 hasConcept C134018914 @default.
• W2613370009 hasConcept C142724271 @default.
• W2613370009 hasConcept C24586158 @default.
• W2613370009 hasConcept C2775833069 @default.
• W2613370009 hasConcept C2775934546 @default.
• W2613370009 hasConcept C2776287708 @default.
• W2613370009 hasConcept C2777390665 @default.
• W2613370009 hasConcept C2778415529 @default.
• W2613370009 hasConcept C2778553927 @default.
• W2613370009 hasConcept C2778930706 @default.
• W2613370009 hasConcept C2779561371 @default.
• W2613370009 hasConcept C2779999465 @default.
• W2613370009 hasConcept C2780091579 @default.
• W2613370009 hasConcept C2780317664 @default.
• W2613370009 hasConcept C2781079508 @default.
• W2613370009 hasConcept C2781087799 @default.
• W2613370009 hasConcept C54355233 @default.
• W2613370009 hasConcept C71924100 @default.
• W2613370009 hasConcept C86803240 @default.
• W2613370009 hasConceptScore W2613370009C104317684 @default.
• W2613370009 hasConceptScore W2613370009C126322002 @default.
• W2613370009 hasConceptScore W2613370009C134018914 @default.
• W2613370009 hasConceptScore W2613370009C142724271 @default.
• W2613370009 hasConceptScore W2613370009C24586158 @default.
• W2613370009 hasConceptScore W2613370009C2775833069 @default.
• W2613370009 hasConceptScore W2613370009C2775934546 @default.
• W2613370009 hasConceptScore W2613370009C2776287708 @default.
• W2613370009 hasConceptScore W2613370009C2777390665 @default.
• W2613370009 hasConceptScore W2613370009C2778415529 @default.
• W2613370009 hasConceptScore W2613370009C2778553927 @default.
• W2613370009 hasConceptScore W2613370009C2778930706 @default.
• W2613370009 hasConceptScore W2613370009C2779561371 @default.
• W2613370009 hasConceptScore W2613370009C2779999465 @default.
• W2613370009 hasConceptScore W2613370009C2780091579 @default.
• W2613370009 hasConceptScore W2613370009C2780317664 @default.
• W2613370009 hasConceptScore W2613370009C2781079508 @default.
• W2613370009 hasConceptScore W2613370009C2781087799 @default.
• W2613370009 hasConceptScore W2613370009C54355233 @default.
• W2613370009 hasConceptScore W2613370009C71924100 @default.
• W2613370009 hasConceptScore W2613370009C86803240 @default.
• W2613370009 hasIssue "8" @default.

• next