A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL‐D) and the molecular characterization of 18 LAL‐D patients from Russia

Abstract Laboratory diagnostics of lysosomal acid lipase deficiency (LAL‐D), a rare disorder associated with LIPA alterations, are based on the evaluation of LAL activity. In dry blood spots (DBS) submitted for LAL‐D diagnostics (the screening cohort) over a two‐year period or obtained from a cohort...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Nikolay Mayanskiy, Ekaterina Brzhozovskaya, Alexander Pushkov, Tatiana Strokova, Nikolay Vlasov, Andrej Surkov, Olga Gundobina, Kirill Savostianov
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2019-07-01
Цуврал:	JIMD Reports
Нөхцлүүд:	cholesterol ester storage disease Lalistat‐2‐independent assay lysosomal acid lipase Wolman disease
Онлайн хандалт:	https://doi.org/10.1002/jmd2.12050
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!