Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program

Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene. Clinically, LAL-D is under- and misdiagnosed, due to similar clinical and laboratory findings with other cholesterol or l...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tinka Hovnik
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2022-07-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	cholesterol ester storage disease CESD lysosomal acid lipase deficiency LAL-D LIPA gene hypercholesterolemia
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fgene.2022.936121/full
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