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Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong, Sunnie Yan-Wai; Beamer, Lesa J; Gadomski, Therese; Honzik, Tomas; Mohamed, Miski; Wortmann, Saskia B; Brocke Holmefjord, Katja S; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Ackermann, Amanda; Stanley, Charles A; Rymen, Daisy; Zeharia, Avraham; Al-Sayed, Moeen; Marquardt, Thomas; Jaeken, Jaak; Lefeber, Dirk; Conrad, Donald F; Kozicz, Tamas; Morava, Eva.
Affiliation
  • Wong SY; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA. Electronic address: swong1@tulane.edu.
  • Beamer LJ; Biochemistry and Chemistry Departments, University of Missouri, Columbia, MO.
  • Gadomski T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA.
  • Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
  • Mohamed M; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Wortmann SB; Salzburger Landeskliniken, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Brocke Holmefjord KS; Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway.
  • Mork M; Department of Pediatric Habilitation, Stavanger University Hospital, Stavanger, Norway.
  • Bowling F; Biochemical Diseases, Mater Children's Hospital, South Brisbane, Queensland, Australia.
  • Sykut-Cegielska J; National Consultant in Paediatric Metabolic Medicine, Screening Department, The Institute of Mother and Child, Warsaw, Poland.
  • Koch D; Pediatric Cardiology, Bergisch Gladbacher Köln, Germany.
  • Ackermann A; Pediatric Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Stanley CA; Pediatric Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Rymen D; Department of Pediatrics, Universitair Ziekenhuis Leuven, Leuven, Belgium.
  • Zeharia A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo, Israel.
  • Al-Sayed M; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
  • Marquardt T; Department of Pediatrics, University of Münster, Münster, Germany.
  • Jaeken J; Centre for Metabolic Diseases, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium.
  • Lefeber D; Department of Neurology, Radboudumc, Nijmegen, The Netherlands.
  • Conrad DF; Department of Genetics, Washington University School of Medicine, Saint Louis, MO.
  • Kozicz T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA.
  • Morava E; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
J Pediatr ; 175: 130-136.e8, 2016 08.
Article in En | MEDLINE | ID: mdl-27206562
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Severity of Illness Index / Glycogen Storage Disease Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Pediatr Year: 2016 Type: Article
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Severity of Illness Index / Glycogen Storage Disease Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: J Pediatr Year: 2016 Type: Article