Matches in SemOpenAlex for { <https://semopenalex.org/work/W4362511013> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W4362511013 endingPage "4" @default.
- W4362511013 startingPage "1" @default.
- W4362511013 abstract "Abstract: Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It is also known as E3 (dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4). DLD, encoded by the DLD gene, is vital for catalysis. Thus, genetically induced deficiency of the enzyme, although very rare, is associated with failure to thrive, hypotonia, and metabolic acidosis [1,2]. 
 In this report, we present the case of a 12-year-old Lebanese boy with a homozygous mutation in the DLD gene: c.685G>T p. Gly229Cys, who presented with liver failure, hyperammonemia, and encephalopathy. Genetic testing of his sibling revealed homozygosity for the same pathogenic variant." @default.
- W4362511013 created "2023-04-06" @default.
- W4362511013 creator A5000961344 @default.
- W4362511013 creator A5003300839 @default.
- W4362511013 creator A5028707155 @default.
- W4362511013 creator A5028754408 @default.
- W4362511013 creator A5071162463 @default.
- W4362511013 creator A5083893166 @default.
- W4362511013 creator A5088069299 @default.
- W4362511013 date "2023-04-01" @default.
- W4362511013 modified "2023-09-27" @default.
- W4362511013 title "First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency" @default.
- W4362511013 doi "https://doi.org/10.36013/jrdod.vi.114" @default.
- W4362511013 hasPublicationYear "2023" @default.
- W4362511013 type Work @default.
- W4362511013 citedByCount "0" @default.
- W4362511013 crossrefType "journal-article" @default.
- W4362511013 hasAuthorship W4362511013A5000961344 @default.
- W4362511013 hasAuthorship W4362511013A5003300839 @default.
- W4362511013 hasAuthorship W4362511013A5028707155 @default.
- W4362511013 hasAuthorship W4362511013A5028754408 @default.
- W4362511013 hasAuthorship W4362511013A5071162463 @default.
- W4362511013 hasAuthorship W4362511013A5083893166 @default.
- W4362511013 hasAuthorship W4362511013A5088069299 @default.
- W4362511013 hasBestOaLocation W43625110131 @default.
- W4362511013 hasConcept C120763696 @default.
- W4362511013 hasConcept C126322002 @default.
- W4362511013 hasConcept C134018914 @default.
- W4362511013 hasConcept C181199279 @default.
- W4362511013 hasConcept C2776917539 @default.
- W4362511013 hasConcept C2778621155 @default.
- W4362511013 hasConcept C2779246250 @default.
- W4362511013 hasConcept C2779546488 @default.
- W4362511013 hasConcept C2781099255 @default.
- W4362511013 hasConcept C54355233 @default.
- W4362511013 hasConcept C55493867 @default.
- W4362511013 hasConcept C71924100 @default.
- W4362511013 hasConcept C86803240 @default.
- W4362511013 hasConcept C88099638 @default.
- W4362511013 hasConceptScore W4362511013C120763696 @default.
- W4362511013 hasConceptScore W4362511013C126322002 @default.
- W4362511013 hasConceptScore W4362511013C134018914 @default.
- W4362511013 hasConceptScore W4362511013C181199279 @default.
- W4362511013 hasConceptScore W4362511013C2776917539 @default.
- W4362511013 hasConceptScore W4362511013C2778621155 @default.
- W4362511013 hasConceptScore W4362511013C2779246250 @default.
- W4362511013 hasConceptScore W4362511013C2779546488 @default.
- W4362511013 hasConceptScore W4362511013C2781099255 @default.
- W4362511013 hasConceptScore W4362511013C54355233 @default.
- W4362511013 hasConceptScore W4362511013C55493867 @default.
- W4362511013 hasConceptScore W4362511013C71924100 @default.
- W4362511013 hasConceptScore W4362511013C86803240 @default.
- W4362511013 hasConceptScore W4362511013C88099638 @default.
- W4362511013 hasLocation W43625110131 @default.
- W4362511013 hasOpenAccess W4362511013 @default.
- W4362511013 hasPrimaryLocation W43625110131 @default.
- W4362511013 hasRelatedWork W1990607121 @default.
- W4362511013 hasRelatedWork W2023188991 @default.
- W4362511013 hasRelatedWork W204691073 @default.
- W4362511013 hasRelatedWork W2128011124 @default.
- W4362511013 hasRelatedWork W2164765820 @default.
- W4362511013 hasRelatedWork W2963529006 @default.
- W4362511013 hasRelatedWork W4221120726 @default.
- W4362511013 hasRelatedWork W4319460776 @default.
- W4362511013 hasRelatedWork W4362511013 @default.
- W4362511013 hasRelatedWork W2181344894 @default.
- W4362511013 isParatext "false" @default.
- W4362511013 isRetracted "false" @default.
- W4362511013 workType "article" @default.