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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt, Willemijn J; Jager, Emmalie A; Allersma, Derk P; Aktuglu Zeybek, A Çigdem; Bhattacharya, Kaustuv; Debray, François-Guillaume; Ellaway, Carolyn J; Gautschi, Matthias; Geraghty, Michael T; Gil-Ortega, David; Larson, Austin A; Moore, Francesca; Morava, Eva; Morris, Andrew A; Oishi, Kimihiko; Schiff, Manuel; Scholl-Bürgi, Sabine; Tchan, Michel C; Vockley, Jerry; Witters, Peter; Wortmann, Saskia B; van Spronsen, Francjan; Van Hove, Johan L K; Derks, Terry G J.
Afiliação
  • van Rijt WJ; Section of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • Jager EA; Section of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • Allersma DP; Department of Clinical Pharmacy and Pharmacology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Aktuglu Zeybek AÇ; Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Bhattacharya K; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Disciplines of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.
  • Debray FG; Department of Medical Genetics, CHU of Liège, Liège, Belgium.
  • Ellaway CJ; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Disciplines of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.
  • Gautschi M; University Hospital Bern, Department of Pediatric Endocrinology, Diabetology and Metabolism and University Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland.
  • Geraghty MT; Division of Metabolics and Newborn Screening, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Gil-Ortega D; Department of Pediatric Gastroenterology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
  • Larson AA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA.
  • Moore F; Biochemical Genetics Laboratory, The Children's Hospital at Westmead, Sydney, Australia.
  • Morava E; Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Morris AA; Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium.
  • Oishi K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
  • Schiff M; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
  • Scholl-Bürgi S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Tchan MC; Reference Centre for Inborn Errors of Metabolism, Robert Debré Univ. Hospital, APHP, INSERM U1141 and Paris Diderot University, Paris, France.
  • Vockley J; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Witters P; Westmead Hospital, University of Sydney, Sydney, Australia.
  • Wortmann SB; Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
  • van Spronsen F; Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium.
  • Van Hove JLK; University Childrens Hospital, Paracelcus Medical University (PMU), Salzburg, Austria.
  • Derks TGJ; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Genet Med ; 22(5): 908-916, 2020 05.
Article em En | MEDLINE | ID: mdl-31904027
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Múltipla de Acil Coenzima A Desidrogenase / Cardiomiopatias Tipo de estudo: Observational_studies / Systematic_reviews Limite: Humans / Infant Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência Múltipla de Acil Coenzima A Desidrogenase / Cardiomiopatias Tipo de estudo: Observational_studies / Systematic_reviews Limite: Humans / Infant Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda