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...

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Detalles Bibliográficos
Autores principales: Sustar, Ursa, Groselj, Urh, Trebusak Podkrajsek, Katarina, Mlinaric, Matej, Kovac, Jernej, Thaler, Martin, Drole Torkar, Ana, Skarlovnik, Ajda, Battelino, Tadej, Hovnik, Tinka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314654/
https://www.ncbi.nlm.nih.gov/pubmed/35903350
http://dx.doi.org/10.3389/fgene.2022.936121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314654/
https://www.ncbi.nlm.nih.gov/pubmed/35903350
http://dx.doi.org/10.3389/fgene.2022.936121

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