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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje, Marit; Fuchs, Sabine A; de Boer, Lonneke; Bosch, Annet M; Cuppen, Inge; Dekkers, Eugenie; Derks, Terry G J; Ferdinandusse, Sacha; Ijlst, Lodewijk; Houtkooper, Riekelt H; Maase, Rose; van der Pol, W Ludo; de Vries, Maaike C; Verschoof-Puite, Rendelien K; Wanders, Ronald J A; Williams, Monique; Wijburg, Frits; Visser, Gepke.
Affiliation
  • Schwantje M; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Fuchs SA; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • de Boer L; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Bosch AM; Department of Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Cuppen I; Department of Metabolic Diseases, Emma Children's Hospital, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Dekkers E; Department of Neurology and Neurosurgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Derks TGJ; National Institute for Public Health and the Environment (RIVM) Reference Laboratory for Pre- and Neonatal Screening, Center for Health Protection (R.M.) and Center for Population Screening (E.D), Bilthoven, The Netherlands.
  • Ferdinandusse S; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Ijlst L; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Houtkooper RH; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Maase R; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • van der Pol WL; National Institute for Public Health and the Environment (RIVM) Reference Laboratory for Pre- and Neonatal Screening, Center for Health Protection (R.M.) and Center for Population Screening (E.D), Bilthoven, The Netherlands.
  • de Vries MC; Department of Neurology and Neurosurgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Verschoof-Puite RK; Department of Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Wanders RJA; Department for Vaccine Supply and Prevention Programs, National Institute for Public Health and the Environment, Bilthoven, The Netherlands.
  • Williams M; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Wijburg F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Visser G; Department of Metabolic Diseases, Emma Children's Hospital, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
J Inherit Metab Dis ; 45(4): 804-818, 2022 07.
Article in En | MEDLINE | ID: mdl-35383965
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Hypoglycemia / Lipid Metabolism, Inborn Errors / Cardiomyopathies Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: J Inherit Metab Dis Year: 2022 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Hypoglycemia / Lipid Metabolism, Inborn Errors / Cardiomyopathies Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: J Inherit Metab Dis Year: 2022 Document type: Article Affiliation country: