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-Reference-Cited by-同舟云学术

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

Published:2017-10 Issue: Volume:265 Page:124-132
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Pisciotta Livia,Tozzi Giulia,Travaglini Lorena,Taurisano Roberta,Lucchi Tiziano^ORCID,Indolfi Giuseppe,Papadia Francesco,Di Rocco Maja,D'Antiga Lorenzo,Crock Patricia,Vora Komal,Nightingale Scott,Michelakakis Helen,Garoufi Anastasia,Lykopoulou Lilia,Bertolini Stefano^ORCID,Calandra Sebastiano

Funder

University of Genova

Emilia-Romagna Region Rare Disease project

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference29 articles.

1. Genomic organization of the human lysosomal acid lipase gene (LIPA);Aslanidis;Genomics,1994

2. Lysosomal acid lipase deficiency;Hoffman,2015

3. Crystal structure of human gastric lipase and model of lysosomal acid lipase, two lipolytic enzymes of medical interest;Roussel;J. Biol. Chem.,1999

4. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and cholesteryl ester storage diseases;Porto;Pediatr. Endocrinol. Rev.,2014

5. Lysosomal acid lipase deficiency – an under-recognized cause of dyslipidemia and liver dysfunction;Reiner;Atherosclerosis,2014

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