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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Lipidomics in pathogenesis, progression and treatment of nonalcoholic steatohepatitis (NASH): Recent advances.
TL;DR: In this paper , the authors discuss the lipid species and metabolic pathways leading to NASH development and progression to cirrhosis, as well as and those species that can contribute to inflammation resolution and fibrosis regression.
Journal ArticleDOI
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry
Manisha Balwani,William F. Balistreri,Lorenzo D'Antiga,Jennifer R Evans,E. Ros,Florian Abel,Don P. Wilson +6 more
TL;DR: The International Lysosomal Acid Lipase Deficiency Registry (NCT01633489) is accessible to centres caring for patients diagnosed by deficient LAL activity and/or biallelic pathogenic LIPA variants as discussed by the authors .
Journal ArticleDOI
Zöliakie oder glutensensitive Enteropathie und hereditäre Speichererkrankungen
TL;DR: Bekannte häufige Ursachen einer hepatischen Steatose sind Insulin resistenz auf dem Boden eines metabolischen Syndroms and Alkohol, die zur nicht alkoholischen (NAFLD) oder zur alkohholischen Fettlebererkrankung (AFL) führen, sowie akute and chronische Virusinfektionen as mentioned in this paper .
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
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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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