Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience

INTRODUCTION: Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified either clinically or by NBS,for clinical and gene...

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Detalles Bibliográficos
Autores principales: Maguolo, A., Rodella, G., Dianin, A., Nurti, R., Monge, I., Rigotti, E., Cantalupo, G., Salviati, L., Tucci, S., Pellegrini, F., Molinaro, G., Lupi, F., Tonin, P., Pasini, A., Campostrini, N., Ion Popa, F., Teofoli, F., Vincenzi, M., Camilot, M., Piacentini, G., Bordugo, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414009/
https://www.ncbi.nlm.nih.gov/pubmed/32793418
http://dx.doi.org/10.1016/j.ymgmr.2020.100632

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