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https://repository.monashhealth.org/monashhealthjspui/handle/1/37418| Title: | Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI. | Authors: | Lubout C.M.A.;Erwich J.J.;Bergman K.A.;Lunsing R.J.;Schwarz G.;Veldman A.;van Spronsen F.J.;Meiners L.;Derks T.G.J. | 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, Germany | Issue Date: | 20-Apr-2018 | Copyright year: | 2018 | Publisher: | W.B. Saunders Ltd | Place of publication: | United Kingdom | Publication information: | European Journal of Paediatric Neurology. 22 (3) (pp 536-540), 2018. Date of Publication: May 2018. | Journal: | European Journal of Paediatric Neurology | Abstract: | Molybdenum 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 Society | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.ejpn.2017.11.006 | PubMed URL: | 29274890 [http://www.ncbi.nlm.nih.gov/pubmed/?term=29274890] | ISSN: | 1090-3798 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/37418 | Type: | Article | Type of Clinical Study or Trial: | Case series or case report |
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