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What is Proposed Nosology for Metabolic Disorders about?

The document proposes a new nosology for inborn errors of metabolism (IEMs) based on a strict definition of criteria for disorder inclusion. It identifies 1,015 well-characterized IEMs and 111 less well-characterized conditions, providing a master list grouped by pathophysiological basis. The aim is to standardize definitions and promote collaboration in the field, with an acknowledgment that updates will be necessary as genetics advances.

Author

Charles

Language

EN