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Tangier Disease: Combined Clinical Staff Conference at the National Institutes of Health
Abstract
Clinical Staff Conference1 December 1961Tangier DiseaseCombined Clinical Staff Conference at the National Institutes of HealthDONALD S. FREDRICKSON, M.D., PAUL H. ALTROCCHI, M.D., LOUIS V. AVIOLI, M.D., DE WITT S. GOODMAN, M.D., HOWARD C. GOODMAN, M.D.DONALD S. FREDRICKSON, M.D., PAUL H. ALTROCCHI, M.D., LOUIS V. AVIOLI, M.D., DE WITT S. GOODMAN, M.D., HOWARD C. GOODMAN, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-55-6-1016 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. Donald S. Fredrickson: This is the story of an island, a family, and a strange malady. In telling it we hope to acquaint you with some of the biochemical approaches to current problems in both fat transport and the lipid storage diseases. Since our story lends itself to the narrative style, we are taking advantage of this in our presentation.In addition to those of us who have been concerned specifically with the study of an abnormality which we have termed "Tangier disease," we are fortunate to have Dr. Louis Avioli and Dr. De Witt Goodman as discussants.Dr....References1. FREDRICKSONALTROCCHI DSPH: Tangier disease (familial cholesterolosis with high-density lipoprotein deficiency). Sphingolipidoses, ed. by Aronson, S. M., and Volk, B. W., Academic Press, New York. To be published. Google Scholar2. NIEMANN A: Ein unbekanntes Krankheitsbild. Jahrb. Kinderh. 79: 1, 1914. Google Scholar3. FREDRICKSON DS: Niemann-Pick disease, in The Metabolic Basis of Inherited Disease, ed. by Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., McGraw-Hill Book Company, Inc., New York, 1960, p. 580. Google Scholar4. HANAHANDITTMERWARASHINA DJJCE: A column chromatographic separation of classes of phospholipides. J. Biol. Chem. 228: 685, 1957. CrossrefMedlineGoogle Scholar5. THANNHAUSERMAGENDANTZ SJH: The different clinical groups of xanthomatous diseases; a clinical physiological study of 22 cases. Ann. Intern. Med. 11: 1662, 1939. LinkGoogle Scholar6. COWIEMAGEE DMMC: Lipoids and lipoid diseases. III. Lipoid content of tissues in Schüller-Christian's disease (xanthomatosis) and review of literature on lipoid content of human tissues. Arch. Intern. Med. 53: 391, 1934. CrossrefGoogle Scholar7. BIERMANLANMANDODKELLYMILLERSHIMKIN HRJTKSKHERMB: The ameliorative effect of antibiotics on non-lipoid reticuloendotheliosis (Letterer-Siwe disease) in identical twins. J. Pediat. 40: 269, 1952. CrossrefMedlineGoogle Scholar8. HALLGRENSTENHAGENSVANBORGSVENNERHOLM BSAL: Gas chromatographic analysis of the fatty acid composition of the plasma lipids in normal and diabetic subjects. J. Clin. Invest. 39: 1424, 1960. CrossrefMedlineGoogle Scholar9. TAVORMINAGIBBSHUFF PAMHJW: The utilization of β-hydroxy-β-methyl δ-valerolactone in cholesterol biosynthesis. J. Amer. Chem. Soc. 78: 4498, 1956. CrossrefGoogle Scholar10. FREDRICKSONGORDON DSRS: Transport of fatty acids. Physiol. Rev. 38: 585, 1958. CrossrefMedlineGoogle Scholar11. GITLINCORNWELLNAKASATOONCLEYHUGHESJANEWAY DDGDJLWLC: Studies on the metabolism of plasma proteins in the nephrotic syndrome. J. Clin. Invest. 37: 172. 1958. CrossrefMedlineGoogle Scholar12. RODBELLFREDRICKSON MDS: The nature of the proteins associated with dog and human chylomicrons. J. Biol. Chem. 234: 562, 1959. CrossrefMedlineGoogle Scholar13. SCANUPAGE AIH: Separation and characterization of human serum chylomicrons. J. Exp. Med. 109: 239, 1959. CrossrefMedlineGoogle Scholar14. HAVELEDERBRAGDON RJHAJH: The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J. Clin. Invest. 34: 1345, 1955. CrossrefMedlineGoogle Scholar15. SALTWOLFFLLOYDFOSBROOKECAMERONHUBBLE HBOHJKASAHDV: On having no beta-lipoprotein: a syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. Lancet 2: 325, 1960. CrossrefMedlineGoogle Scholar16. HOTTACHAIKOFF SIL: The role of the liver in the turnover of plasma cholesterol Arch. Biochem. Biophys. 56: 28, 1955. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: DONALD S. FREDRICKSON, M.D.; PAUL H. ALTROCCHI, M.D.; LOUIS V. AVIOLI, M.D.; DE WITT S. GOODMAN, M.D.; HOWARD C. GOODMAN, M.D.Affiliations: Bethesda, MarylandThis is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Maryland, by the National Heart Institute, National Institutes of Health, Public Health Service, Department of Health, Education, and Welfare.Requests for reprints should be addressed to Donald S. Fredrickson, M.D., National Heart Institute, Bethesda 14, Maryland.A preliminary report of this disease was presented at the Symposium on Sphingolipidoses held in Brooklyn, New York, March 29, 1961 (1). PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byCorneal Manifestations of Metabolic Di
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Metadata
- Authors
- FREDRICKSON, D. S., ALTROCCHI, P. H., AVIOLI, L. V., GOODMAN, D. W. S., & GOODMAN, H. C.
- Venue
- Annals of Internal Medicine
- Publisher
- American College of Physicians
- Published
- 1961-12-01
- Volume
- 55
- Issue
- 6
- Pages
- 1016-1031
- ISSN
- 0003-4819 (ISSN-L)
- 1539-3704
- OpenAlex
- W2052764851
- Cited by
- 264
- References
- 0
- FWCI
- 12.96
- Type
- journal article
- Language
- en
- Open access
- closed
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- FREDRICKSON, D. S., ALTROCCHI, P. H., AVIOLI, L. V., GOODMAN, D. W. S., & GOODMAN, H. C. (1961). Tangier Disease: Combined Clinical Staff Conference at the National Institutes of Health. Annals of Internal Medicine. https://doi.org/10.7326/0003-4819-55-6-1016
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