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

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

Background/ObjectivesThe 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 from...

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Bibliographic Details
Main Authors: Elise A. Ferreira, Mark J. N. Buijs, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Machteld M. Oud, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Neurology
Subjects:
inherited metabolic disorders (IMD)
metabolic
genomics
adults
diagnostics
exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1206106/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1206106/full

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