Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

BACKGROUND/OBJECTIVES: The timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are different from those in children and influenced by symptoms fr...

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Detalles Bibliográficos
Autores principales: Ferreira, Elise A., Buijs, Mark J. N., Wijngaard, Robin, Daams, Joost G., Datema, Mareen R., Engelen, Marc, van Karnebeek, Clara D. M., Oud, Machteld M., Vaz, Frédéric M., Wamelink, Mirjam M. C., van der Crabben, Saskia N., Langeveld, Mirjam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10408679/
https://www.ncbi.nlm.nih.gov/pubmed/37560457
http://dx.doi.org/10.3389/fneur.2023.1206106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10408679/
https://www.ncbi.nlm.nih.gov/pubmed/37560457
http://dx.doi.org/10.3389/fneur.2023.1206106

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