Article
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Atherosclerosis - 1 Oct 2017
Pisciotta Livia, Tozzi Giulia, Travaglini Lorena, Taurisano Roberta, Lucchi Tiziano, Indolfi Giuseppe, Papadia Francesco, Di Rocco Maja, D'Antiga Lorenzo, Crock Patricia, Vora Komal, Nightingale Scott, Michelakakis Helen, Garoufi Anastasia, Lykopoulou Lilia, Bertolini Stefano, Calandra Sebastiano
Abstract excerpt
BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine and cardiovascular system. The aim of this study was the clinical...
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