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D-bifunctional protein deficiency, a novel mutation

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dc.contributor.author Dib R.E.
dc.contributor.author Karam P.
dc.contributor.author Mikati M.A.
dc.contributor.author Steinberg S.
dc.contributor.author Habbal M.Z.
dc.contributor.editor
dc.date 2008
dc.date.accessioned 2017-10-05T16:01:02Z
dc.date.available 2017-10-05T16:01:02Z
dc.date.issued 2008
dc.identifier
dc.identifier.isbn
dc.identifier.issn 13042580
dc.identifier.uri http://hdl.handle.net/10938/19286
dc.description.abstract Deficiency of D-bifunctional protein causes a severe, Zellweger-like phenotype. Different mutations were found in humans causing the total or partial loss of this enzyme's function. We report a family with severe Zellweger-like syndrome with a typical presentation of neonatal hypotonia and seizures, biochemical evidence of peroxisomal disease, and a novel mutation C.1052TG (V351G) in a homozygous state. © 2008 IOS Press. All rights reserved.
dc.format.extent
dc.format.extent Pages: (357-360)
dc.language English
dc.relation.ispartof Publication Name: Journal of Pediatric Neurology; Publication Year: 2008; Volume: 6; no. 4; Pages: (357-360);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title D-bifunctional protein deficiency, a novel mutation
dc.type Article
dc.contributor.affiliation Dib, R.E., Department of Pediatrics, American University of Beirut Medical Center, P.O. BOX 11-0236, Beirut 11072020, Lebanon
dc.contributor.affiliation Karam, P., Department of Pediatrics, American University of Beirut Medical Center, P.O. BOX 11-0236, Beirut 11072020, Lebanon
dc.contributor.affiliation Mikati, M.A., Department of Pediatrics, American University of Beirut Medical Center, P.O. BOX 11-0236, Beirut 11072020, Lebanon
dc.contributor.affiliation Steinberg, S., Peroxisomal Diseases Laboratory, The Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, United States
dc.contributor.affiliation Habbal, M.Z., Department of Pathology, Laboratory Medicine, American University of Beirut Medical Center, P.O. BOX 11-0236, Beirut 11072020, Lebanon
dc.contributor.authorAddress Habbal, M.Z.; Department of Pathology, Laboratory Medicine, American University of Beirut Medical Center, P.O. BOX 11-0236, Beirut 11072020, Lebanon; email: mh03@aub.edu.lb
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pediatrics and Adolescent Medicine;
dc.contributor.authorDepartment Pediatrics and Adolescent Medicine
dc.contributor.authorDivision
dc.contributor.authorEmail
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials empty
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited
dc.description.citedCount
dc.description.citedTotWOSCount
dc.description.citedWOSCount
dc.format.extentCount 4
dc.identifier.articleNo
dc.identifier.coden
dc.identifier.pubmedID
dc.identifier.scopusID 58149380324
dc.identifier.url
dc.publisher.address
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr
dc.relation.ispartOfIssue 4
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Journal of Pediatric Neurology
dc.relation.ispartofPubTitleAbbr J. Pediatr. Neurol.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 6
dc.source.ID
dc.type.publication Journal
dc.subject.otherAuthKeyword D-bifunctional protein
dc.subject.otherAuthKeyword Novel mutation
dc.subject.otherChemCAS clonazepam, 1622-61-3
dc.subject.otherChemCAS phenobarbital, 50-06-6, 57-30-7, 8028-68-0
dc.subject.otherChemCAS phenytoin, 57-41-0, 630-93-3
dc.subject.otherChemCAS pyridoxine, 12001-77-3, 58-56-0, 65-23-6, 8059-24-3
dc.subject.otherChemCAS thiamine, 59-43-8, 67-03-8
dc.subject.otherIndex clonazepam
dc.subject.otherIndex phenobarbital
dc.subject.otherIndex phenytoin
dc.subject.otherIndex pyridoxine
dc.subject.otherIndex thiamine
dc.subject.otherIndex very long chain fatty acid
dc.subject.otherIndex amino acid substitution
dc.subject.otherIndex article
dc.subject.otherIndex autosomal recessive disorder
dc.subject.otherIndex brain atrophy
dc.subject.otherIndex case report
dc.subject.otherIndex consanguinity
dc.subject.otherIndex controlled study
dc.subject.otherIndex D bifunctional protein deficiency
dc.subject.otherIndex Dandy Walker syndrome
dc.subject.otherIndex electroencephalography
dc.subject.otherIndex face dysmorphia
dc.subject.otherIndex family history
dc.subject.otherIndex fatty acid oxidation
dc.subject.otherIndex homozygosity
dc.subject.otherIndex human
dc.subject.otherIndex hyporeflexia
dc.subject.otherIndex infant
dc.subject.otherIndex karyotype 46,XY
dc.subject.otherIndex male
dc.subject.otherIndex muscle hypotonia
dc.subject.otherIndex mutational analysis
dc.subject.otherIndex nuclear magnetic resonance imaging
dc.subject.otherIndex oligohydramnios
dc.subject.otherIndex peroxisome
dc.subject.otherIndex schizencephaly
dc.subject.otherIndex seizure
dc.subject.otherIndex Zellweger syndrome
dc.subject.otherKeywordPlus
dc.subject.otherWOS


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