Matches in SemOpenAlex for { <https://semopenalex.org/work/W2896950923> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W2896950923 endingPage "2350" @default.
- W2896950923 startingPage "2350" @default.
- W2896950923 abstract "Urea cycle disorders result from defects in the metabolism of waste nitrogenous compounds derived from the breakdown of proteins and other nitrogen-containing molecules. Argininosuccinic aciduria is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. It is caused by defect in the argininosuccinate lyase (ASL) gene, which regulates the breakdown of argininosuccinate to fumarate and arginine in the urea cycle. They are a heterogeneous group of disorders which are associated with hyperammonemia resulting in severe neurological dysfunction like encephalopathy, seizures, developmental and psychomotor delay. The severe central nervous system dysfunction is by alteration of amino acid and neurotransmitters pathways and interference with normal cerebral energy metabolism and oxidative stress. Ammonium toxicity to the brain provokes irreversible damage due to cortical atrophy, edema, and demyelination, resulting in seizures, coma, and even death. We report such a case of urea cycle defect in a newborn that presented with recurrent encephalopathy with hyperammonemia precipitated by minor infections. Detailed investigations including genetic analysis lead to the diagnosis of argininosuccinic aciduria." @default.
- W2896950923 created "2018-10-26" @default.
- W2896950923 creator A5005700430 @default.
- W2896950923 creator A5042034622 @default.
- W2896950923 date "2018-10-22" @default.
- W2896950923 modified "2023-10-18" @default.
- W2896950923 title "Recurrent encephalopathy and hyperammonemia in new born: case of arginosuccinic aciduria" @default.
- W2896950923 doi "https://doi.org/10.18203/2349-3291.ijcp20184308" @default.
- W2896950923 hasPublicationYear "2018" @default.
- W2896950923 type Work @default.
- W2896950923 sameAs 2896950923 @default.
- W2896950923 citedByCount "0" @default.
- W2896950923 crossrefType "journal-article" @default.
- W2896950923 hasAuthorship W2896950923A5005700430 @default.
- W2896950923 hasAuthorship W2896950923A5042034622 @default.
- W2896950923 hasBestOaLocation W28969509231 @default.
- W2896950923 hasConcept C126322002 @default.
- W2896950923 hasConcept C134018914 @default.
- W2896950923 hasConcept C188610204 @default.
- W2896950923 hasConcept C2776761436 @default.
- W2896950923 hasConcept C2777468819 @default.
- W2896950923 hasConcept C2777535116 @default.
- W2896950923 hasConcept C2778621155 @default.
- W2896950923 hasConcept C2779129087 @default.
- W2896950923 hasConcept C2781099255 @default.
- W2896950923 hasConcept C515207424 @default.
- W2896950923 hasConcept C55493867 @default.
- W2896950923 hasConcept C71924100 @default.
- W2896950923 hasConcept C77061444 @default.
- W2896950923 hasConcept C86803240 @default.
- W2896950923 hasConceptScore W2896950923C126322002 @default.
- W2896950923 hasConceptScore W2896950923C134018914 @default.
- W2896950923 hasConceptScore W2896950923C188610204 @default.
- W2896950923 hasConceptScore W2896950923C2776761436 @default.
- W2896950923 hasConceptScore W2896950923C2777468819 @default.
- W2896950923 hasConceptScore W2896950923C2777535116 @default.
- W2896950923 hasConceptScore W2896950923C2778621155 @default.
- W2896950923 hasConceptScore W2896950923C2779129087 @default.
- W2896950923 hasConceptScore W2896950923C2781099255 @default.
- W2896950923 hasConceptScore W2896950923C515207424 @default.
- W2896950923 hasConceptScore W2896950923C55493867 @default.
- W2896950923 hasConceptScore W2896950923C71924100 @default.
- W2896950923 hasConceptScore W2896950923C77061444 @default.
- W2896950923 hasConceptScore W2896950923C86803240 @default.
- W2896950923 hasIssue "6" @default.
- W2896950923 hasLocation W28969509231 @default.
- W2896950923 hasOpenAccess W2896950923 @default.
- W2896950923 hasPrimaryLocation W28969509231 @default.
- W2896950923 hasRelatedWork W11668414 @default.
- W2896950923 hasRelatedWork W2031442399 @default.
- W2896950923 hasRelatedWork W2085362802 @default.
- W2896950923 hasRelatedWork W2102015651 @default.
- W2896950923 hasRelatedWork W2397172865 @default.
- W2896950923 hasRelatedWork W2417248422 @default.
- W2896950923 hasRelatedWork W2737018310 @default.
- W2896950923 hasRelatedWork W2737675163 @default.
- W2896950923 hasRelatedWork W2896950923 @default.
- W2896950923 hasRelatedWork W639950511 @default.
- W2896950923 hasVolume "5" @default.
- W2896950923 isParatext "false" @default.
- W2896950923 isRetracted "false" @default.
- W2896950923 magId "2896950923" @default.
- W2896950923 workType "article" @default.