Quo vadis: the re-definition of “inborn metabolic diseases”

  title={Quo vadis: the re-definition of “inborn metabolic diseases”},
  author={Eva Morava and Shamima Rahman and Verena Peters and Matthias R Baumgartner and Marc C. Patterson and Johannes Zschocke},
  journal={Journal of Inherited Metabolic Disease},
How should we define or redefine inborn metabolic diseases (IMDs) in the era of genetic diagnostic revolution? Previously, it was relatively easy: IMDs were mostly inherited, and occasionally de novo, genetic disorders of the biosynthesis or breakdown of substances within specific pathways that were recognized by specific biochemical tests and sometimes treatable by metabolic intervention. Current challenges in the new era of emerging novel disorders are discussed and illustrated by examples of… CONTINUE READING
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The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans

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