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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Conte, Federica; Morava, Eva; Bakar, Nurulamin Abu; Wortmann, Saskia B; Poerink, Anne Jonge; Grunewald, Stephanie; Crushell, Ellen; Al-Gazali, Lihadh; de Vries, Maaike C; Mørkrid, Lars; Hertecant, Jozef; Brocke Holmefjord, Katja S; Kronn, David; Feigenbaum, Annette; Fingerhut, Ralph; Wong, Sunnie Y; van Scherpenzeel, Monique; Voermans, Nicol C; Lefeber, Dirk J.
  • Conte F; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmege
  • Morava E; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, USA. Electronic address: Morava-Kozicz.Eva@mayo.edu.
  • Bakar NA; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmege
  • Wortmann SB; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) und Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address: wortmann-h
  • Poerink AJ; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands; Department of Pediatrics, Medisch Centrum Twente, Enschede, the Netherlands. Electronic address: A.JongePoerink@mst.nl.
  • Grunewald S; Great Ormond Street Hospital Foundation Trust, UCL Institute of Child Health, London, Great Britain, UK. Electronic address: Stephanie.Grunewald@gosh.nhs.uk.
  • Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street and Crumlin Hospitals, Dublin, Ireland. Electronic address: Ellen.Crushell@cuh.ie.
  • Al-Gazali L; Department of Pediatrics, College of Medicine & Health Sciences, UAE University, Al-Ain, United Arab Emirates. Electronic address: l.algazali@uaeu.ac.ae.
  • de Vries MC; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands. Electronic address: Maaike.deVries@radboudumc.nl.
  • Mørkrid L; Institute of Clinical Medicine, University of Oslo, Norway; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, Norway. Electronic address: lamo2@ous-hf.no.
  • Hertecant J; Genetics and Metabolics Service, Tawam Hospital, Al Ain, United Arab Emirates. Electronic address: jhertecant@seha.ae.
  • Brocke Holmefjord KS; Department. of Pediatric Habilitation/Department of Pediatric Neurology, Stavanger University Hospital, Stavanger, Norway. Electronic address: katja.sara.brocke.holmefjord@sus.no.
  • Kronn D; Medical Genetic, Inherited Metabolic Diseases and Lysosomal Storage Disorders Center, Boston Children Hospital, MA, USA. Electronic address: David_Kronn@bchphysicians.org.
  • Feigenbaum A; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA. Electronic address: afeigenbaum@ucsd.edu.
  • Fingerhut R; Swiss Newborn Screening Laboratory, Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland. Electronic address: Ralph.Fingerhut@kispi.uzh.ch.
  • Wong SY; Hayard Genetics Center, Tulane University School of Medicine, New Orleans, LA, United States of America. Electronic address: swong1@tulane.edu.
  • van Scherpenzeel M; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; GlycoMScan B.V, Oss, the Netherlands. Electronic address: monique.vanscherpenzeel@glycomscan.com.
  • Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.
  • Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmege
Mol Genet Metab ; 131(1-2): 135-146, 2020.
Article en En | MEDLINE | ID: mdl-33342467
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Enfermedad del Almacenamiento de Glucógeno / Trastornos Congénitos de Glicosilación / Hipoglucemia Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfoglucomutasa / Enfermedad del Almacenamiento de Glucógeno / Trastornos Congénitos de Glicosilación / Hipoglucemia Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Año: 2020 Tipo del documento: Article