Matches in SemOpenAlex for { <https://semopenalex.org/work/W2920808813> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2920808813 endingPage "641" @default.
- W2920808813 startingPage "639" @default.
- W2920808813 abstract "Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage. The authors report a case of an 8-y boy who was diagnosed with Citrullinemia Type 1 at birth which was anticipated prenatally due to family history. His diagnosis was confirmed as a homozygous mutation (Exon 15: c.1168G > A (p.G390R)) of ASS gene. Inspite of being on a protein-free diet and ammonia scavenging treatment; the patient developed recurrent episodes of encephalopathy and seizures; complicated with behavioral issues. The patient underwent living related liver-transplantation from his mother (heterozygous carrier of the same mutation). Peri-transplant management of ammonia and plasma amino acid levels is challenging and has been highlighted. It is important to consider liver transplantation as it corrects the genetic deficiency of ASS resulting in the reversal of neuro-behavioral changes, as was seen in index patient." @default.
- W2920808813 created "2019-03-22" @default.
- W2920808813 creator A5010972793 @default.
- W2920808813 creator A5034538233 @default.
- W2920808813 creator A5034611066 @default.
- W2920808813 creator A5045422342 @default.
- W2920808813 creator A5053351665 @default.
- W2920808813 creator A5077011730 @default.
- W2920808813 creator A5086888517 @default.
- W2920808813 creator A5091786488 @default.
- W2920808813 date "2019-03-08" @default.
- W2920808813 modified "2023-10-03" @default.
- W2920808813 title "Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation" @default.
- W2920808813 cites W2015051686 @default.
- W2920808813 cites W2029724772 @default.
- W2920808813 cites W2071969533 @default.
- W2920808813 cites W2149808377 @default.
- W2920808813 cites W2170491580 @default.
- W2920808813 cites W2237257366 @default.
- W2920808813 cites W2799325932 @default.
- W2920808813 doi "https://doi.org/10.1007/s12098-019-02905-8" @default.
- W2920808813 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30848473" @default.
- W2920808813 hasPublicationYear "2019" @default.
- W2920808813 type Work @default.
- W2920808813 sameAs 2920808813 @default.
- W2920808813 citedByCount "3" @default.
- W2920808813 countsByYear W29208088132021 @default.
- W2920808813 countsByYear W29208088132022 @default.
- W2920808813 crossrefType "journal-article" @default.
- W2920808813 hasAuthorship W2920808813A5010972793 @default.
- W2920808813 hasAuthorship W2920808813A5034538233 @default.
- W2920808813 hasAuthorship W2920808813A5034611066 @default.
- W2920808813 hasAuthorship W2920808813A5045422342 @default.
- W2920808813 hasAuthorship W2920808813A5053351665 @default.
- W2920808813 hasAuthorship W2920808813A5077011730 @default.
- W2920808813 hasAuthorship W2920808813A5086888517 @default.
- W2920808813 hasAuthorship W2920808813A5091786488 @default.
- W2920808813 hasBestOaLocation W29208088131 @default.
- W2920808813 hasConcept C126322002 @default.
- W2920808813 hasConcept C134018914 @default.
- W2920808813 hasConcept C187212893 @default.
- W2920808813 hasConcept C188610204 @default.
- W2920808813 hasConcept C2776169613 @default.
- W2920808813 hasConcept C2777468819 @default.
- W2920808813 hasConcept C2777535116 @default.
- W2920808813 hasConcept C2778621155 @default.
- W2920808813 hasConcept C2779129087 @default.
- W2920808813 hasConcept C2779609443 @default.
- W2920808813 hasConcept C2781099255 @default.
- W2920808813 hasConcept C2911091166 @default.
- W2920808813 hasConcept C515207424 @default.
- W2920808813 hasConcept C54355233 @default.
- W2920808813 hasConcept C71924100 @default.
- W2920808813 hasConcept C77061444 @default.
- W2920808813 hasConcept C86803240 @default.
- W2920808813 hasConcept C90924648 @default.
- W2920808813 hasConceptScore W2920808813C126322002 @default.
- W2920808813 hasConceptScore W2920808813C134018914 @default.
- W2920808813 hasConceptScore W2920808813C187212893 @default.
- W2920808813 hasConceptScore W2920808813C188610204 @default.
- W2920808813 hasConceptScore W2920808813C2776169613 @default.
- W2920808813 hasConceptScore W2920808813C2777468819 @default.
- W2920808813 hasConceptScore W2920808813C2777535116 @default.
- W2920808813 hasConceptScore W2920808813C2778621155 @default.
- W2920808813 hasConceptScore W2920808813C2779129087 @default.
- W2920808813 hasConceptScore W2920808813C2779609443 @default.
- W2920808813 hasConceptScore W2920808813C2781099255 @default.
- W2920808813 hasConceptScore W2920808813C2911091166 @default.
- W2920808813 hasConceptScore W2920808813C515207424 @default.
- W2920808813 hasConceptScore W2920808813C54355233 @default.
- W2920808813 hasConceptScore W2920808813C71924100 @default.
- W2920808813 hasConceptScore W2920808813C77061444 @default.
- W2920808813 hasConceptScore W2920808813C86803240 @default.
- W2920808813 hasConceptScore W2920808813C90924648 @default.
- W2920808813 hasIssue "7" @default.
- W2920808813 hasLocation W29208088131 @default.
- W2920808813 hasLocation W29208088132 @default.
- W2920808813 hasOpenAccess W2920808813 @default.
- W2920808813 hasPrimaryLocation W29208088131 @default.
- W2920808813 hasRelatedWork W2091771425 @default.
- W2920808813 hasRelatedWork W2108013927 @default.
- W2920808813 hasRelatedWork W2397172865 @default.
- W2920808813 hasRelatedWork W2409182392 @default.
- W2920808813 hasRelatedWork W2413108418 @default.
- W2920808813 hasRelatedWork W2737018310 @default.
- W2920808813 hasRelatedWork W2896950923 @default.
- W2920808813 hasRelatedWork W2920808813 @default.
- W2920808813 hasRelatedWork W3028763399 @default.
- W2920808813 hasRelatedWork W98982707 @default.
- W2920808813 hasVolume "86" @default.
- W2920808813 isParatext "false" @default.
- W2920808813 isRetracted "false" @default.
- W2920808813 magId "2920808813" @default.
- W2920808813 workType "article" @default.