“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

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Authors: Laura S. Kremer, Saskia B. Wortmann, Holger Prokisch

Journal title: Journal of Inherited Metabolic Disease

Journal number: 41/3

Journal publisher: Kluwer Academic Publishers

Published year: 2018

Published pages: 525-532

DOI identifier: 10.1007/s10545-017-0133-4

ISSN: 0141-8955