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
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Journal ArticleDOI
Seltene Krankheiten: Angeborene Stoffwechselstörungen im Kinder- und Jugendalter
TL;DR: The classification into 4 clinical pictures is helpful: energy deficiency/intoxication; neurodegeneration/storage; Energiedefizienz/Intoxikation; Neurodegenerations/Speicherung; and energy deficiency /intoxications/storage.
Book ChapterDOI
Structure-based virtual screening to identify potential lipase inhibitors to reduce lipid storage in Wolman disorder.
TL;DR: In this article , the lead compounds were docked with native and G87V mutant LIPA, and the molecular dynamics simulations result indicated that dl-alpha-Tocopherol-13C3, a molecule obtained from the PubChem database, is identified as a potential and stable lead molecule that could be effective against the G87v mutant form of LIPAs.
Journal ArticleDOI
Genetic Markers Predisposing to Nonalcoholic Steatohepatitis.
TL;DR: In this article , the authors focus on the genetic markers associated with the progression and severity of nonalcoholic fatty liver disease (NAFLD) and propose potential therapeutic targets in the future.
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.
Book
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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