Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
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TLDR
All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure.About:
This article is published in Journal of Hepatology.The article was published on 2013-06-01 and is currently open access. It has received 284 citations till now. The article focuses on the topics: Cholesterol ester storage disease & Lysosomal acid lipase deficiency.read more
Citations
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Book ChapterDOI
The Adrenal Cortex and its Disorders
TL;DR: The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid, mineralocortricoid, and androgenic activity as discussed by the authors, which are essential for normal physiology.
Journal ArticleDOI
Lysosomal acid lipase and lipid metabolism: new mechanisms, new questions, and new therapies.
TL;DR: In this article, a review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk, and highlights the role of lysosomal acid lipase (LAL) in pathophysiology.
Journal ArticleDOI
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
TL;DR: It is concluded that LAL-D is a very rare condition, but it is treatable so may be included in a 'second-line' of tests for causes of fatty liver, given the therapeutic capability of sebelipase alpha.
Journal ArticleDOI
Immunometabolic function of cholesterol in cardiovascular disease and beyond.
TL;DR: Aim of this review is to discuss the molecular mechanisms linking cellular cholesterol metabolism to specific immune functions, how cellular cholesterol accumulation sustains chronic inflammatory diseases such as atherosclerosis; and the immunometabolic profile of patients with defects of genes affecting cholesterol metabolism.
Journal ArticleDOI
Paediatric fatty liver disease (PeFLD): All is not NAFLD – Pathophysiological insights and approach to management
TL;DR: The known causes of steatosis in children according to their typical, clinical presentation are summarized to provide pathophysiological insights and an approach to management of the ever more complex subject of fatty liver.
References
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Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
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The metabolic basis of inherited disease
TL;DR: The metabolic basis of inherited disease, the metabolic basis for inherited disease as mentioned in this paper, The metabolic basis in inherited disease and inherited diseases, and inherited disease diagnosis and management, in the context of inherited diseases
Journal ArticleDOI
The Human Gene Mutation Database: 2008 update
Peter D. Stenson,Matthew Mort,Edward V. Ball,Katy Howells,Andrew David Phillips,Nicholas Stuart Tudor Thomas,David Neil Cooper +6 more
TL;DR: Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics.
Journal ArticleDOI
Drug-induced toxicity on mitochondria and lipid metabolism: Mechanistic diversity and deleterious consequences for the liver
TL;DR: In obese and diabetic patients, some drugs may induce acute liver injury more frequently while others may worsen the pre-existent steatosis (or steatohepatitis), which is characterized not only by lipid accumulation but also by necroinflammation and fibrosis.
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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
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