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Journal of Inherited Metabolic Disease

Erschienen in:

01.11.2015 | Editorial

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

verfasst von: Eva Morava, Shamima Rahman, Verena Peters, Matthias R. Baumgartner, Marc Patterson, Johannes Zschocke

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 6/2015

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Excerpt

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 “classic” and novel-type IMDs. …

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Titel: Quo vadis: the re-definition of “inborn metabolic diseases”
verfasst von: Eva Morava
Shamima Rahman
Verena Peters
Matthias R. Baumgartner
Marc Patterson
Johannes Zschocke
Publikationsdatum: 01.11.2015
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 6/2015
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-015-9893-x

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