19955111
{19955111:JYQQM5QB}
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vancouver
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https://neuropediatoolkit.org/wp-content/plugins/zotpress/
statussuccessupdateneededfalseinstancefalsemetarequest_last0request_next0used_cachetruedatakeyJYQQM5QBlibraryid19955111metacreatorSummaryRizzoetal.parsedDate2012numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtRizzoWJenkensSBoucherP.RecognitionandDiagnosisofNeuro-IchthyoticSyndromes.SeminarsinNeurologyInternet.2012cited2016Sept93201075x201384.Availablefromltaclass039zp-ItemURL039href039httpwww.thieme-connect.deDOIDOI10.1055s-0032-1306390039gthttpwww.thieme-connect.deDOIDOI10.1055s-0032-1306390ltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleRecognitionandDiagnosisofNeuro-IchthyoticSyndromescreatorscreatorTypeauthorfirstNameWilliamlastNameRizzocreatorTypeauthorfirstNameSabrinalastNameJenkenscreatorTypeauthorfirstNamePhiliplastNameBoucherabstractNoteThecombinationofneurologicdiseaseandichthyosisdefinesaheterogeneousgroupofrareinheriteddisordersthatpresentininfancythroughearlyadulthood.Althoughaffectedpatientssharethecutaneousfeatureofichthyosisthereisvariabilityinthenatureandseverityofneurologicdisease.Impairedcognitionspasticitysensorineuraldeafnessvisualimpairmentandorseizuresaretheprimaryneurologicfindings.Mostofthesedisordersarecausedbygeneticdefectsinlipidmetabolismglycoproteinsynthesisorintracellularvesicletrafficking.Theclinicalfeaturesofsomeoftheneuro-ichthyosesaredistinctenoughtoallowtheirclinicalrecognitionbutconfirmatorybiochemicalorgenetictestsarenecessaryforaccuratediagnosis.TreatmentoftheichthyosisislargelysymptomaticandexceptforRefsum039sdiseasetherearenoeffectivepathogenesis-basedtherapiesfortheneurologicdisease.date22012sectionpartNumberpartTitleDOI10.1055s-0032-1306390citationKeyurlhttpwww.thieme-connect.deDOIDOI10.1055s-0032-1306390PMIDPMCIDISSN0271-82351098-9021languageencollections33PLIMR2HHRMM2RFdateModified2026-07-15T223820Z
1.
Rizzo W, Jenkens S, Boucher P. Recognition and Diagnosis of Neuro-Ichthyotic Syndromes. Seminars in Neurology [Internet]. 2012 [cited 2016 Sept 9];32(01):075–84. Available from: http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1306390