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Article

Inherited metabolic rare disease.

Advances in experimental medicine and biology - 1 Jan 2010

Pampols Teresa

Abstract excerpt

Inherited metabolic disorders (IMD) represent a vast, diverse and heterogeneous collection of around 700 genetic diseases. They are caused by rare mutations that affect the function of individual proteins and are a significant cause of morbidity and mortality, especially in childhood. Difficulties in ascertaining cases and the increasing number of new disorders have hampered efforts to accumulate exhaustive...

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PMID: 20824458
DOI: 10.1007/978-90-481-9485-8_23

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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