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Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/37418
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dc.contributor.authorLubout C.M.A.en
dc.contributor.authorErwich J.J.en
dc.contributor.authorBergman K.A.en
dc.contributor.authorLunsing R.J.en
dc.contributor.authorSchwarz G.en
dc.contributor.authorVeldman A.en
dc.contributor.authorvan Spronsen F.J.en
dc.contributor.authorMeiners L.en
dc.contributor.authorDerks T.G.J.en
dc.date.accessioned2021-05-14T12:43:50Zen
dc.date.available2021-05-14T12:43:50Zen
dc.date.copyright2018en
dc.date.created20180420en
dc.date.issued2018-04-20en
dc.identifier.citationEuropean Journal of Paediatric Neurology. 22 (3) (pp 536-540), 2018. Date of Publication: May 2018.en
dc.identifier.issn1090-3798en
dc.identifier.urihttps://repository.monashhealth.org/monashhealthjspui/handle/1/37418en
dc.description.abstractMolybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available. Because prenatal data is scarce, we report data of prenatal Magnetic Resonance Imaging (MRI) in two cases with MoCD-A demonstrating signs of possible early brain injury. Prenatal MRI can be used for monitoring in MoCD-A to guide decision-making in timing of delivery.Copyright © 2017 European Paediatric Neurology Societyen
dc.languageEnglishen
dc.languageenen
dc.publisherW.B. Saunders Ltden
dc.relation.ispartofEuropean Journal of Paediatric Neurologyen
dc.titleMolybdenum cofactor deficiency type A: Prenatal monitoring using MRI.en
dc.typeArticleen
dc.type.studyortrialCase series or case report-
dc.identifier.doihttp://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.ejpn.2017.11.006en
dc.publisher.placeUnited Kingdomen
dc.identifier.pubmedid29274890 [http://www.ncbi.nlm.nih.gov/pubmed/?term=29274890]en
dc.identifier.source619948352en
dc.identifier.institution(Lubout, Derks, van Spronsen) Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, RB Groningen 9700, Netherlands (Meiners) Division of Radiology, University Medical Center Groningen, University of Groningen, PO Box 30.001, RB Groningen 9700, Netherlands (Erwich) Division of Obstetrics, University Medical Center Groningen, University of Groningen, PO Box 30.001, RB Groningen 9700, Netherlands (Bergman) Division of Neonatology, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, RB Groningen 9700, Netherlands (Lunsing) Department of Child Neurology, University Medical Center Groningen, University of Groningen, PO Box 30.001, RB Groningen 9700, Netherlands (Schwarz) Institute of Biochemistry, Department of Chemistry & Centre for Molecular Medicine, University of Cologne, Zulpicher Str. 47, Cologne 50674, Germany (Veldman) Monash Newborn, Monash Medical Centre, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia (Veldman) The Ritchie Centre, Hudson Institute of Medical Research, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia (Veldman) The Department of Pediatrics, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia (Veldman) Department of Pediatrics, St. Vincenz Hospital, Auf dem Schafsberg, Limburg 65549, Germanyen
dc.description.addressF.J. van Spronsen, Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, RB Groningen 9700, Netherlands. E-mail: f.j.van.spronsen@umcg.nlen
dc.description.publicationstatusEmbaseen
dc.rights.statementCopyright 2018 Elsevier B.V., All rights reserved.en
dc.subect.keywordscPMP Cyclic pyranopterin monophosphate MoCD-A Molybdenum cofactor deficiency type A prenatal Magnetic Resonance Imagingen
dc.identifier.authoremailvan Spronsen F.J.; f.j.van.spronsen@umcg.nlen
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeArticle-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
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