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Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Rücklová, Kristina; Hrubá, Eva; Pavlíková, Markéta; Hanák, Petr; Farolfi, Martina; Chrastina, Petr; Vlásková, Hana; Kousal, Bohdan; Smolka, Vratislav; Foltenová, Hana; Adam, Tomás; Friedecký, David; Jesina, Pavel; Zeman, Jirí; Kozich, Viktor; Honzík, Tomás.
Affiliation
  • Rücklová K; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Hrubá E; Department of Paediatrics, 3rd Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, 100 34 Prague, Czech Republic.
  • Pavlíková M; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Hanák P; Department of Probability and Mathematical Statistics, Faculty of Mathematics and Physics, Charles University, 121 16 Prague, Czech Republic.
  • Farolfi M; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Chrastina P; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Vlásková H; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Kousal B; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Smolka V; Department of Ophthalmology, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Foltenová H; Department of Paediatrics, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, 779 00 Olomouc, Czech Republic.
  • Adam T; Department of Paediatrics, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, 779 00 Olomouc, Czech Republic.
  • Friedecký D; Institute of Molecular and Translational Medicine, Czech Advanced Technology and Research Institute (CATRIN), Palacký University Olomouc, 779 00 Olomouc, Czech Republic.
  • Jesina P; Institute of Molecular and Translational Medicine, Czech Advanced Technology and Research Institute (CATRIN), Palacký University Olomouc, 779 00 Olomouc, Czech Republic.
  • Zeman J; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Kozich V; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
  • Honzík T; Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
Nutrients ; 13(9)2021 Aug 24.
Article in En | MEDLINE | ID: mdl-34578803
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Neonatal Screening / Mitochondrial Myopathies / Acyl-CoA Dehydrogenase / Mitochondrial Trifunctional Protein / Lipid Metabolism, Inborn Errors / Cardiomyopathies / Nervous System Diseases Type of study: Diagnostic_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: Nutrients Year: 2021 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Neonatal Screening / Mitochondrial Myopathies / Acyl-CoA Dehydrogenase / Mitochondrial Trifunctional Protein / Lipid Metabolism, Inborn Errors / Cardiomyopathies / Nervous System Diseases Type of study: Diagnostic_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: Nutrients Year: 2021 Document type: Article Affiliation country: