Matches in SemOpenAlex for { <https://semopenalex.org/work/W2951330982> ?p ?o ?g. }
Showing items 1 to 73 of
73
with 100 items per page.
- W2951330982 abstract "A deficiency of adenylosuccinate lyase (ASDL) is characterised by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. The severity of the clinical presentation correlates with a low S-Ado/SAICAr ratio in body fluids. We report the first British case of ADSL deficiency. The patient presented at 14 days with a progressive neonatal encephalopathy and seizures. There was marked axial and peripheral hypotonia. Brain MRI showed widespread white matter changes. She died at 4 weeks of age. Concentrations of SAICAr and SAdo were markedly elevated in urine, plasma and CSF and the SAdo/SAICAr ratio was low, consistent with the severe phenotype. The patient was compound heterozygous for 2 novel ADSL mutations; c.9 G>C (A3P) and c.572 C>T (R190X)." @default.
- W2951330982 created "2019-06-27" @default.
- W2951330982 creator A5008435063 @default.
- W2951330982 creator A5021252665 @default.
- W2951330982 creator A5026313946 @default.
- W2951330982 creator A5031499372 @default.
- W2951330982 creator A5055591766 @default.
- W2951330982 creator A5069454303 @default.
- W2951330982 creator A5074174039 @default.
- W2951330982 creator A5083804598 @default.
- W2951330982 creator A5088025499 @default.
- W2951330982 date "2005-03-08" @default.
- W2951330982 modified "2023-09-24" @default.
- W2951330982 title "Adenylosuccinate Lyase Deficiency ? First British Case" @default.
- W2951330982 cites W2095629754 @default.
- W2951330982 doi "https://doi.org/10.1002/chin.200510205" @default.
- W2951330982 hasPublicationYear "2005" @default.
- W2951330982 type Work @default.
- W2951330982 sameAs 2951330982 @default.
- W2951330982 citedByCount "0" @default.
- W2951330982 crossrefType "journal-article" @default.
- W2951330982 hasAuthorship W2951330982A5008435063 @default.
- W2951330982 hasAuthorship W2951330982A5021252665 @default.
- W2951330982 hasAuthorship W2951330982A5026313946 @default.
- W2951330982 hasAuthorship W2951330982A5031499372 @default.
- W2951330982 hasAuthorship W2951330982A5055591766 @default.
- W2951330982 hasAuthorship W2951330982A5069454303 @default.
- W2951330982 hasAuthorship W2951330982A5074174039 @default.
- W2951330982 hasAuthorship W2951330982A5083804598 @default.
- W2951330982 hasAuthorship W2951330982A5088025499 @default.
- W2951330982 hasConcept C104317684 @default.
- W2951330982 hasConcept C12125453 @default.
- W2951330982 hasConcept C126322002 @default.
- W2951330982 hasConcept C126838900 @default.
- W2951330982 hasConcept C127716648 @default.
- W2951330982 hasConcept C143409427 @default.
- W2951330982 hasConcept C185592680 @default.
- W2951330982 hasConcept C2778080812 @default.
- W2951330982 hasConcept C2778621155 @default.
- W2951330982 hasConcept C2779546488 @default.
- W2951330982 hasConcept C2781192897 @default.
- W2951330982 hasConcept C55493867 @default.
- W2951330982 hasConcept C71924100 @default.
- W2951330982 hasConceptScore W2951330982C104317684 @default.
- W2951330982 hasConceptScore W2951330982C12125453 @default.
- W2951330982 hasConceptScore W2951330982C126322002 @default.
- W2951330982 hasConceptScore W2951330982C126838900 @default.
- W2951330982 hasConceptScore W2951330982C127716648 @default.
- W2951330982 hasConceptScore W2951330982C143409427 @default.
- W2951330982 hasConceptScore W2951330982C185592680 @default.
- W2951330982 hasConceptScore W2951330982C2778080812 @default.
- W2951330982 hasConceptScore W2951330982C2778621155 @default.
- W2951330982 hasConceptScore W2951330982C2779546488 @default.
- W2951330982 hasConceptScore W2951330982C2781192897 @default.
- W2951330982 hasConceptScore W2951330982C55493867 @default.
- W2951330982 hasConceptScore W2951330982C71924100 @default.
- W2951330982 hasLocation W29513309821 @default.
- W2951330982 hasOpenAccess W2951330982 @default.
- W2951330982 hasPrimaryLocation W29513309821 @default.
- W2951330982 hasRelatedWork W1994711691 @default.
- W2951330982 hasRelatedWork W2004824042 @default.
- W2951330982 hasRelatedWork W2011881892 @default.
- W2951330982 hasRelatedWork W2162625483 @default.
- W2951330982 hasRelatedWork W2346048935 @default.
- W2951330982 hasRelatedWork W2748952813 @default.
- W2951330982 hasRelatedWork W2899084033 @default.
- W2951330982 hasRelatedWork W2950036879 @default.
- W2951330982 hasRelatedWork W2953127630 @default.
- W2951330982 hasRelatedWork W3136415254 @default.
- W2951330982 isParatext "false" @default.
- W2951330982 isRetracted "false" @default.
- W2951330982 magId "2951330982" @default.
- W2951330982 workType "article" @default.