Matches in SemOpenAlex for { <https://semopenalex.org/work/W2050882661> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2050882661 endingPage "189" @default.
- W2050882661 startingPage "188" @default.
- W2050882661 abstract "α-Methylacyl-coenzyme A (CoA) racemase deficiency is a peroxisomal disorder leading to accumulation of pristanate and bile acid intermediates. Of four cases reported, two had adult-onset neuropathy; one had retinitis pigmentosa, epilepsy, migraine, and depression, and the other had pyramidal signs.1,2⇓ Two cases were children: one with Niemann-Pick type C disease,2 and one with vitamin K deficiency.3 We describe another case with tremor, retinitis pigmentosa, and deep white matter MRI changes who subsequently developed an encephalopathy with left hemiparesis and unchanged MRI. She did not respond to plasma exchange.A woman aged 53 years was examined for a 17-year history of upper limb, head, and voice tremor. Nocturnal visual difficulties began 12 months before evaluation. From adolescence she had asthma and migraine. At age 45 years she developed severe depression, which still requires antipsychotics. Her father developed mild action tremor in adolescence consistent with essential tremor. A maternal half uncle is registered blind with retinitis pigmentosa. Her parents and uncle have normal pristanate …" @default.
- W2050882661 created "2016-06-24" @default.
- W2050882661 creator A5003167091 @default.
- W2050882661 creator A5008399348 @default.
- W2050882661 creator A5009514619 @default.
- W2050882661 creator A5022605302 @default.
- W2050882661 creator A5040743356 @default.
- W2050882661 creator A5066585441 @default.
- W2050882661 creator A5070743371 @default.
- W2050882661 creator A5072933549 @default.
- W2050882661 date "2004-07-12" @default.
- W2050882661 modified "2023-09-24" @default.
- W2050882661 title "Tremor and deep white matter changes in -methylacyl-CoA racemase deficiency" @default.
- W2050882661 cites W1491186360 @default.
- W2050882661 cites W1999714572 @default.
- W2050882661 cites W2128554431 @default.
- W2050882661 cites W2135997554 @default.
- W2050882661 cites W1971365801 @default.
- W2050882661 doi "https://doi.org/10.1212/01.wnl.0000132841.81250.b7" @default.
- W2050882661 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15249642" @default.
- W2050882661 hasPublicationYear "2004" @default.
- W2050882661 type Work @default.
- W2050882661 sameAs 2050882661 @default.
- W2050882661 citedByCount "38" @default.
- W2050882661 countsByYear W20508826612012 @default.
- W2050882661 countsByYear W20508826612013 @default.
- W2050882661 countsByYear W20508826612014 @default.
- W2050882661 countsByYear W20508826612015 @default.
- W2050882661 countsByYear W20508826612016 @default.
- W2050882661 countsByYear W20508826612017 @default.
- W2050882661 countsByYear W20508826612018 @default.
- W2050882661 countsByYear W20508826612019 @default.
- W2050882661 countsByYear W20508826612020 @default.
- W2050882661 countsByYear W20508826612021 @default.
- W2050882661 countsByYear W20508826612022 @default.
- W2050882661 countsByYear W20508826612023 @default.
- W2050882661 crossrefType "journal-article" @default.
- W2050882661 hasAuthorship W2050882661A5003167091 @default.
- W2050882661 hasAuthorship W2050882661A5008399348 @default.
- W2050882661 hasAuthorship W2050882661A5009514619 @default.
- W2050882661 hasAuthorship W2050882661A5022605302 @default.
- W2050882661 hasAuthorship W2050882661A5040743356 @default.
- W2050882661 hasAuthorship W2050882661A5066585441 @default.
- W2050882661 hasAuthorship W2050882661A5070743371 @default.
- W2050882661 hasAuthorship W2050882661A5072933549 @default.
- W2050882661 hasConcept C126838900 @default.
- W2050882661 hasConcept C143409427 @default.
- W2050882661 hasConcept C169760540 @default.
- W2050882661 hasConcept C2781192897 @default.
- W2050882661 hasConcept C71924100 @default.
- W2050882661 hasConcept C86803240 @default.
- W2050882661 hasConceptScore W2050882661C126838900 @default.
- W2050882661 hasConceptScore W2050882661C143409427 @default.
- W2050882661 hasConceptScore W2050882661C169760540 @default.
- W2050882661 hasConceptScore W2050882661C2781192897 @default.
- W2050882661 hasConceptScore W2050882661C71924100 @default.
- W2050882661 hasConceptScore W2050882661C86803240 @default.
- W2050882661 hasIssue "1" @default.
- W2050882661 hasLocation W20508826611 @default.
- W2050882661 hasLocation W20508826612 @default.
- W2050882661 hasOpenAccess W2050882661 @default.
- W2050882661 hasPrimaryLocation W20508826611 @default.
- W2050882661 hasRelatedWork W1971355501 @default.
- W2050882661 hasRelatedWork W1991530671 @default.
- W2050882661 hasRelatedWork W2027417710 @default.
- W2050882661 hasRelatedWork W2536083918 @default.
- W2050882661 hasRelatedWork W2612019735 @default.
- W2050882661 hasRelatedWork W2748952813 @default.
- W2050882661 hasRelatedWork W2899084033 @default.
- W2050882661 hasRelatedWork W2994381943 @default.
- W2050882661 hasRelatedWork W3031052312 @default.
- W2050882661 hasRelatedWork W3032375762 @default.
- W2050882661 hasVolume "63" @default.
- W2050882661 isParatext "false" @default.
- W2050882661 isRetracted "false" @default.
- W2050882661 magId "2050882661" @default.
- W2050882661 workType "article" @default.