2016
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 11289-11293. PMID: 27647924, PMCID: PMC5056113, DOI: 10.1073/pnas.1613228113.Peer-Reviewed Original ResearchConceptsAcyl-CoA oxidase 2Liver fibrosisCognitive impairmentElevated transaminase levelsTreatable inborn errorsBile acid synthesisBile acid intermediatesBile acid biosynthesisTransaminase elevationTransaminase levelsMarked elevationMild ataxiaBile acidsPatient's liverOxidase 2Acyl-CoA oxidaseOld maleBranched chain acyl-CoA oxidaseInborn errorsExome sequencingPremature termination mutationsBranched-chain fatty acidsFibrosisAtaxiaLiver
2006
Wobbly Hedgehog Syndrome in African Pygmy Hedgehogs (Atelerix spp.)
Graesser D, Spraker T, Dressen P, Garner M, Raymond J, Terwilliger G, Kim J, Madri J. Wobbly Hedgehog Syndrome in African Pygmy Hedgehogs (Atelerix spp.). Journal Of Exotic Pet Medicine 2006, 15: 59-65. DOI: 10.1053/j.jepm.2005.11.010.Peer-Reviewed Original ResearchWobbly hedgehog syndromeCentral nervous systemClinical signsNervous systemNeurogenic muscle atrophySevere neurologic signsYears of agePost-mortem examinationAfrican pygmy hedgehogNeurologic signsSpinal cordProgression rateMuscle atrophyProgressive paralysisCharacteristic histopathologyComplete paralysisMild ataxiaFamilial tendencyWhite matterAfrican hedgehogSyndromeParalysisSignsAgeOnset
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