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A Novel Variant in the LIPA Gene Associated with Distinct Phenotype

Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ester storage disease - CESD). The diagnosis is b...

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Detalles Bibliográficos
Autores principales:	Sarajlija, A., Armengol, L., Maver, A., Kitic, I., Prokic, D., Cehic, M., Djuricic, M.S., Peterlin, B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sciendo 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985358/ https://www.ncbi.nlm.nih.gov/pubmed/36880034 http://dx.doi.org/10.2478/bjmg-2022-0010

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