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Oral D-galactose supplementation in PGM1-CDG.
Wong, Sunnie Yan-Wai; Gadomski, Therese; van Scherpenzeel, Monique; Honzik, Tomas; Hansikova, Hana; Holmefjord, Katja S Brocke; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Hertecant, Jozef; Preston, Graeme; Jaeken, Jaak; Peeters, Nicole; Perez, Stefanie; Nguyen, David Do; Crivelly, Kea; Emmerzaal, Tim; Gibson, K Michael; Raymond, Kimiyo; Abu Bakar, Nurulamin; Foulquier, Francois; Poschet, Gernot; Ackermann, Amanda M; He, Miao; Lefeber, Dirk J; Thiel, Christian; Kozicz, Tamas; Morava, Eva.
Afiliação
  • Wong SY; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Gadomski T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • van Scherpenzeel M; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.
  • Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
  • Hansikova H; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
  • Holmefjord KSB; 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; Screening and Metabolic Diagnostics Department, The Institute of Mother and Child, Warsaw, Poland.
  • Koch D; Pediatric Cardiology, Bergisch Gladbacher Koln, Koln, Germany.
  • Hertecant J; Genetics/Metabolics Service, Tawam Hospital, Al Ain, United Arab Emirates.
  • Preston G; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Jaeken J; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Peeters N; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Perez S; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Nguyen DD; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Crivelly K; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Emmerzaal T; Department of Anatomy, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Gibson KM; Washington State University College of Pharmacy, Spokane, Washington, USA.
  • Raymond K; Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Abu Bakar N; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.
  • Foulquier F; University Lille, CNRS, UMR 8576-UGSF-Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France.
  • Poschet G; Centre for Organismal Studies (COS), University of Heidelberg, Heidelberg, Germany.
  • Ackermann AM; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • He M; Palmieri Metabolic Disease Laboratory, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.
  • Thiel C; Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany.
  • Kozicz T; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Morava E; Department of Anatomy, Radboud University Medical Centre, Nijmegen, The Netherlands.
Genet Med ; 19(11): 1226-1235, 2017 11.
Article em En | MEDLINE | ID: mdl-28617415

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Galactose Tipo de estudo: Observational_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio / Galactose Tipo de estudo: Observational_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article