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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Main Authors: A. Maguolo, G. Rodella, A. Dianin, R. Nurti, I. Monge, E. Rigotti, G. Cantalupo, L. Salviati, S. Tucci, F. Pellegrini, G. Molinaro, F. Lupi, P. Tonin, A. Pasini, N. Campostrini, F. Ion Popa, F. Teofoli, M. Vincenzi, M. Camilot, G. Piacentini, A. Bordugo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020-09-01
Colecção:Molecular Genetics and Metabolism Reports
Assuntos:
Fatty acid oxidation defects
Expanded newborn screening
Enzymatic activity
Synergistic heterozygosity
Hypoglycaemia
Myopathy
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2214426920300781
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