Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM) Academic Article uri icon

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abstract

  • Endocrinologists may encounter abnormal results in routine laboratory tests while caring for patients with inborn errors of metabolism. This article provides a framework for understanding these abnormalities as: a) part of the pathophysiology of the exceptional disease, b) exceptional laboratory errors related to the exceptional disease, or c) routine laboratory errors to which any patient sample is susceptible.

publication date

  • March 2018