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822 articles

Systematic Review

Published on 25 Jul 2023

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

in Neuromuscular Disorders and Peripheral Neuropathies

  • 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
Frontiers in Neurology
doi 10.3389/fneur.2023.1206106
  • 4,835 views
  • 5 citations