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

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. T...

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Detalles Bibliográficos
Autores principales: Rücklová, Kristina, Hrubá, Eva, Pavlíková, Markéta, Hanák, Petr, Farolfi, Martina, Chrastina, Petr, Vlášková, Hana, Kousal, Bohdan, Smolka, Vratislav, Foltenová, Hana, Adam, Tomáš, Friedecký, David, Ješina, Pavel, Zeman, Jiří, Kožich, Viktor, Honzík, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469775/
https://www.ncbi.nlm.nih.gov/pubmed/34578803
http://dx.doi.org/10.3390/nu13092925

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