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Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.
Lubout, Charlotte M A; Derks, Terry G J; Meiners, Linda; Erwich, Jan Jaap; Bergman, Klasien A; Lunsing, Roelineke J; Schwarz, Guenter; Veldman, Alex; van Spronsen, Francjan J.
Afiliação
  • Lubout CMA; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Derks TGJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Meiners L; Division of Radiology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Erwich JJ; Division of Obstetrics, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Bergman KA; Division of Neonatology, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Lunsing RJ; Department of Child Neurology, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands.
  • Schwarz G; Institute of Biochemistry, Department of Chemistry & Centre for Molecular Medicine, University of Cologne, Zülpicher Str. 47, 50674 Cologne, Germany.
  • Veldman A; Monash Newborn, Monash Medical Centre, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia; The Ritchie Centre, Hudson Institute of Medical Research, Monash University, 246 Clayton Rd, Clayton, Melbourne 3168, Australia; The Department of Pediatrics, Monash University, 246 Clayton
  • van Spronsen FJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, the Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
Eur J Paediatr Neurol ; 22(3): 536-540, 2018 May.
Article em En | MEDLINE | ID: mdl-29274890
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Encéfalo / Imageamento por Ressonância Magnética / Erros Inatos do Metabolismo dos Metais Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Paediatr Neurol Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Encéfalo / Imageamento por Ressonância Magnética / Erros Inatos do Metabolismo dos Metais Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Paediatr Neurol Ano de publicação: 2018 Tipo de documento: Article