Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience

Inherited metabolic diseases (IMDs) are genetic conditions that result in metabolism alterations. Although research-based Next Generation Sequencing (NGS) testing for IMD has been recently implemented, its application in a clinical diagnostic setting remains challenging. Thus, we aimed at investigat...

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Detalles Bibliográficos
Autores principales: Lenzini, Livia, Carraro, Gianni, Avogaro, Angelo, Vitturi, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9312969/
https://www.ncbi.nlm.nih.gov/pubmed/35883476
http://dx.doi.org/10.3390/biom12070920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9312969/
https://www.ncbi.nlm.nih.gov/pubmed/35883476
http://dx.doi.org/10.3390/biom12070920

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