المؤلفون: Schwantje M; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, 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., de Boer L; Department of Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Bosch AM; Department of Metabolic Diseases, Emma Children's Hospital, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Cuppen I; Department of Neurology and Neurosurgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Dekkers E; 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., Derks TGJ; Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, 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; 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., van der Pol WL; Department of Neurology and Neurosurgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., de Vries MC; Department of Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Verschoof-Puite RK; Department for Vaccine Supply and Prevention Programs, National Institute for Public Health and the Environment, Bilthoven, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands., Wijburg F; Department of Metabolic Diseases, Emma Children's Hospital, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.; Laboratory Genetic Metabolic Diseases, and Metabolism Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 804-818. Date of Electronic Publication: 2022 Apr 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies*/diagnosis , Cardiomyopathies*/genetics , Hypoglycemia* , Lipid Metabolism, Inborn Errors*/diagnosis , Lipid Metabolism, Inborn Errors*/genetics , Lipid Metabolism, Inborn Errors*/metabolism , Rhabdomyolysis*/diagnosis , Rhabdomyolysis*/genetics, 3-Hydroxyacyl CoA Dehydrogenases ; Humans ; Infant, Newborn ; Mitochondrial Myopathies ; Mitochondrial Trifunctional Protein/deficiency ; Molecular Biology ; Neonatal Screening ; Nervous System Diseases ; Netherlands ; Retrospective Studies

SCR Disease Name: Trifunctional Protein Deficiency With Myopathy And Neuropathy

المؤلفون: Van Driessche K; a Department of Pathology, Bacteriology and Avian Medicine , Faculty of Veterinary Medicine , Ghent University , Merelbeke , Belgium., Ducatelle R, Chiers K, Van Coster R, van der Kolk JH

المصدر: The veterinary quarterly [Vet Q] 2015 Mar; Vol. 35 (1), pp. 2-8. Date of Electronic Publication: 2014 Dec 01.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 7909485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1875-5941 (Electronic) Linking ISSN: 01652176 NLM ISO Abbreviation: Vet Q Subsets: MEDLINE

مواضيع طبية MeSH: Horse Diseases/*pathology , Mitochondria, Muscle/*ultrastructure , Mitochondrial Myopathies/*veterinary , Quadriceps Muscle/*pathology, Animals ; Autopsy/veterinary ; Diagnosis, Differential ; Female ; Horse Diseases/blood ; Horse Diseases/urine ; Horses ; Male ; Microscopy, Electron, Transmission/veterinary ; Mitochondrial Myopathies/blood ; Mitochondrial Myopathies/pathology ; Mitochondrial Myopathies/urine ; Netherlands ; Quadriceps Muscle/ultrastructure