Newly Recognized Disorders of Cholesterol Metabolism.
1963; American College of Physicians; Volume: 58; Issue: 4 Linguagem: Inglês
10.7326/0003-4819-58-4-718_1
ISSN1539-3704
Autores Tópico(s)Lysosomal Storage Disorders Research
Resumos1 April 1963Newly Recognized Disorders of Cholesterol Metabolism.D. S. Fredrickson, M.D.D. S. Fredrickson, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-58-4-718_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTwo new disorders of cholesterol metabolism, both apparently genetically determined, have been recently uncovered. Although rare, they offer different vantage points from which to view sterol metabolism. A common feature of both is tissue storage of extraordinary amounts of cholesterol esters.Tangier disease has now been recognized in at least 4 patients. The diagnosis may be suspected from the odd size and appearance of the tonsils in association with hypocholesterolemia. The disease is characterized by near absence of plasma high density lipoproteins (HDL), a defect which expresses itself in lesser degree in parents and other relatives. Evidence has accumulated from... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: D. S. Fredrickson, M.D.Affiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byThe novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiencyLysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patientsLysosomal Acid Lipase Deficiency: Report of Five Cases across the Age SpectrumLysosomal acid lipase deficiency - underestimated cause of dislipidemia. what's new?Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasisLysosomal acid lipase deficiency: a form of non-obese fatty liver disease (NOFLD)Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiencyThe role of sebelipase alfa in the treatment of lysosomal acid lipase deficiencyManaging Cardiovascular Risk in Lysosomal Acid Lipase DeficiencyIdentification and metabolic profiling of patients with lysosomal acid lipase deficiencyLysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunctionCholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed diseaseCholesteryl Ester Storage DiseaseInborn Errors of Metabolism that Lead to Permanent Liver InjuryHistiocytosis and Storage DiseasesCholesterol Ester Storage Disease With Unusual Neurological Manifestations in Two Siblings: A Report From South IndiaInborn Errors of Metabolism that Lead to Permanent Liver InjuryWolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsySubclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancerCongenital LipidosisLovastatin therapy for cholesterol ester storage disease in two sistersNew spectrophotometric assays of acid lipase and their use in the diagnosis of wolman and cholesteryl ester storage diseasesGenetic Mutations Affecting Human Lipoprotein MetabolismAngeborene StoffwechselkrankheitenSterol Storage DiseasesPrenatal Diagnosis of Hereditary Biochemical Disorders of MetabolismHistochemical detection of the enzyme deficiency in blood films in Wolman's disease 1 April 1963Volume 58, Issue 4Page: 718-718KeywordsBlood plasmaCholesterolHigh density lipoproteinSterolsTonsils ePublished: 1 December 2008 Issue Published: 1 April 1963 PDF downloadLoading ...
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