Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights
Author:
Affiliation:
1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas
2. Department of Translational Medical Sciences; Section of Pediatrics, Federico II University; Naples Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/jimd.12057/fullpdf
Reference22 articles.
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2. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease;Bernstein;J Hepatol,2013a
3. 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;Pisciotta;Atherosclerosis,2017
4. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups;Scott;Hepatology,2013
5. Acid lipase in cultured fibroblasts: cholesterol ester storage disease;Beaudet;J Lab Clin Med,1974
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