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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Elis Tiivoja, Karit Reinson, Kai Muru, Kristi Rähn, Kristina Muhu, Laura Mauring, Tiina Kahre, Sander Pajusalu, Katrin Õunap
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2022-11-01
Цуврал:	JIMD Reports
Нөхцлүүд:	diagnostic efficacy epidemiology exome sequencing inborn errors of metabolism inherited metabolic disorders prevalence
Онлайн хандалт:	https://doi.org/10.1002/jmd2.12325
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!