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Article

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

Nature reviews. Genetics - 1 Jun 2006

Lanpher Brendan, Brunetti-Pierri Nicola, Lee Brendan

Abstract excerpt

Inborn errors of metabolism are characterized by dysregulation of the metabolic networks that underlie development and homeostasis, and constitute an important and expanding group of genetic disorders in humans. Diagnostic methods that are based on molecular genetic tools have a limited ability to correlate phenotypes with subtle changes in metabolic fluxes. We argue that the direct and dynamic measurement of...

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PMID: 16708072
DOI: 10.1038/nrg1880

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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