Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program
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DOI: 10.3389/fgene.2022.936121
Abstract: 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… read more here.
Keywords: universal familial; lysosomal acid; acid lipase; hypercholesterolemia ... See more keywords