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Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet, Annemarijne R J; Garrelfs, Mark R; Udink Ten Cate, Floris E A; Ferdinandusse, Sacha; Denis, Simone; Fuchs, Sabine A; Schwantje, Marit; Geurtzen, Rosa; van Wegberg, Annemiek M J; Huigen, Marleen C D G; Kluijtmans, Leo A J; Wanders, Ronald J A; Derks, Terry G J; de Boer, Lonneke; Houtkooper, Riekelt H; de Vries, Maaike C; van Karnebeek, Clara D M.
Afiliação
  • Veenvliet ARJ; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
  • Garrelfs MR; Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Nijmegen, the Netherlands.
  • Udink Ten Cate FEA; Academic Center for Congenital Heart Disease (ACAHA), Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Ferdinandusse S; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Denis S; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Schwantje M; United for Metabolic Diseases, the Netherlands.
  • Geurtzen R; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • van Wegberg AMJ; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Huigen MCDG; Amalia Childrens Hospital, department of neonatology, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Kluijtmans LAJ; Department of Gastroenterology and Hepatology, Dietetics and Intestinal Failure, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Wanders RJA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Derks TGJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
  • de Boer L; United for Metabolic Diseases, the Netherlands.
  • Houtkooper RH; Laboratory Genetic Metabolic Diseases; Amsterdam Gastroenterology, Endocrinology and Metabolism institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • de Vries MC; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.
  • van Karnebeek CDM; Departments of Pediatrics and Human Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
Mol Genet Metab Rep ; 31: 100873, 2022 Jun.
Article em En | MEDLINE | ID: mdl-35782614
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 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 Tipo de estudo: Screening_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda