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

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.

Afiliación

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 en En | MEDLINE | ID: mdl-34578803

Asunto(s)

Acil-CoA Deshidrogenasa/deficiencia; Cardiomiopatías/dietoterapia; Cardiomiopatías/diagnóstico; Errores Innatos del Metabolismo Lipídico/dietoterapia; Errores Innatos del Metabolismo Lipídico/diagnóstico; Miopatías Mitocondriales/dietoterapia; Miopatías Mitocondriales/diagnóstico; Proteína Trifuncional Mitocondrial/deficiencia; Tamizaje Neonatal/métodos; Enfermedades del Sistema Nervioso/dietoterapia; Enfermedades del Sistema Nervioso/diagnóstico; Rabdomiólisis/dietoterapia; Rabdomiólisis/diagnóstico; 3-Hidroxiacil-CoA Deshidrogenasas/deficiencia; Cardiomiopatías/epidemiología; Carnitina/análogos & derivados; Carnitina/sangre; Niño; Preescolar; República Checa/epidemiología; Femenino; Humanos; Incidencia; Lactante; Recién Nacido; Errores Innatos del Metabolismo Lipídico/epidemiología; Masculino; Errores Innatos del Metabolismo/diagnóstico; Miopatías Mitocondriales/epidemiología; Enfermedades del Sistema Nervioso/epidemiología; Evaluación de Resultado en la Atención de Salud; Estudios Retrospectivos; Rabdomiólisis/epidemiología; Índice de Severidad de la Enfermedad

Palabras clave

clinical outcome; fatty acid oxidation disorders; neonatal screening program; severity assessment

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Rabdomiólisis / Tamizaje Neonatal / Miopatías Mitocondriales / Acil-CoA Deshidrogenasa / Proteína Trifuncional Mitocondrial / Errores Innatos del Metabolismo Lipídico / Cardiomiopatías / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies País/Región como asunto: Europa Idioma: En Revista: Nutrients Año: 2021 Tipo del documento: Article

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