Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

INTRODUCTION: Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5) and urine 2-methylbutyrylglycine (2MBG)] in pati...

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Detalles Bibliográficos
Autores principales: Rossi, Alessandro, Turturo, Mariagrazia, Albano, Lucia, Fecarotta, Simona, Barretta, Ferdinando, Crisci, Daniela, Gallo, Giovanna, Perfetto, Rosa, Uomo, Fabiana, Vallone, Fabiana, Villani, Guglielmo, Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Ruoppolo, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485620/
https://www.ncbi.nlm.nih.gov/pubmed/36147814
http://dx.doi.org/10.3389/fped.2022.895921

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485620/
https://www.ncbi.nlm.nih.gov/pubmed/36147814
http://dx.doi.org/10.3389/fped.2022.895921

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