The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period

Abstract Inherited metabolic disorders (IMD) are a group of hereditary diseases wherein the impairment of a biochemical pathway is intrinsic to the pathophysiology of the disease. Estonia's small population and nationwide digitalised healthcare system make it possible to perform an epidemiological s...

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Bibliografski detalji

Glavni autori:	Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2022-11-01
Serija:	JIMD Reports
Teme:	diagnostic efficacy epidemiology exome sequencing inborn errors of metabolism inherited metabolic disorders prevalence
Online pristup:	https://doi.org/10.1002/jmd2.12325
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