Familial chylomicronemia syndrome : raising awareness of a rare genetic disease /
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| Author / Creator: | Davidson, Michael, 1956- author. |
|---|---|
| Imprint: | Abingdon, Oxford : S. Karger, 2022. ©2022 |
| Description: | 1 online resource (72 pages) : color illustrations |
| Language: | English |
| Series: | Fast facts Fast facts. |
| Subject: | |
| Format: | E-Resource Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/13367267 |
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| 100 | 1 | |a Davidson, Michael, |d 1956- |e author. |0 http://id.loc.gov/authorities/names/n97803776 | |
| 245 | 1 | 0 | |a Familial chylomicronemia syndrome : |b raising awareness of a rare genetic disease / |c Michael H. Davidson, Lane Benes, Anthony S. Wierzbicki. |
| 264 | 1 | |a Abingdon, Oxford : |b S. Karger, |c 2022. | |
| 264 | 4 | |c ©2022 | |
| 300 | |a 1 online resource (72 pages) : |b color illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 490 | 1 | |a Fast facts | |
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a Terminology, etiology and pathophysiology -- Diagnosis -- Complications -- Management and prevention -- Research directions. | |
| 520 | |a "Familial chylomicronemia syndrome (FCS) is an ultra-rare genetic disorder characterized by the abnormal build-up of chylomicrons, the largest type of lipoprotein, which transport dietary fat from the gut to the rest of the body. Patients with FCS often experience severe symptoms, the most feared of which is acute, potentially life-threatening, pancreatitis. This resource is intended to raise awareness of FCS among all members of the healthcare team who come into contact with patients with FCS, with the aim of earlier diagnosis and management, thus preventing some of the more devastating physical, neurological and cognitive symptoms of the disorder"--Publisher's description | ||
| 588 | 0 | |a Online resource; title from electronic title page (S. Karger, January 5, 2022). | |
| 650 | 0 | |a Genetic disorders. |0 http://id.loc.gov/authorities/subjects/sh87001834 | |
| 650 | 0 | |a Medical genetics. |0 http://id.loc.gov/authorities/subjects/sh85082937 | |
| 650 | 0 | |a Lipids |x Metabolism |x Disorders. |0 http://id.loc.gov/authorities/subjects/sh85077298 | |
| 650 | 1 | 2 | |a Hyperlipoproteinemia Type I |0 https://id.nlm.nih.gov/mesh/D008072 |
| 650 | 2 | |a Genetic Diseases, Inborn |0 https://id.nlm.nih.gov/mesh/D030342 | |
| 650 | 2 | |a Genetics, Medical |0 https://id.nlm.nih.gov/mesh/D005826 | |
| 650 | 2 | 2 | |a Lipid Metabolism, Inborn Errors |0 https://id.nlm.nih.gov/mesh/D008052 |
| 650 | 2 | 2 | |a Chylomicrons |0 https://id.nlm.nih.gov/mesh/D002914 |
| 650 | 6 | |a Maladies génétiques. | |
| 650 | 6 | |a Génétique médicale. | |
| 650 | 6 | |a Lipides |x Troubles du métabolisme. | |
| 650 | 6 | |a Chylomicrons. | |
| 650 | 7 | |a Genetic disorders. |2 fast |0 (OCoLC)fst00940009 | |
| 650 | 7 | |a Medical genetics. |2 fast |0 (OCoLC)fst01014133 | |
| 655 | 4 | |a Electronic books. | |
| 700 | 1 | |a Benes, Lane, |e author. | |
| 700 | 1 | |a Wierzbicki, Anthony S., |e author. | |
| 776 | 0 | 8 | |i Print version: |a Davidson, Michael, 1956- |t Familial chylomicronemia syndrome. |d Abingdon, Oxford, UK : Karger, 2022 |z 9783318069846 |w (OCoLC)1285917317 |
| 830 | 0 | |a Fast facts. |0 http://id.loc.gov/authorities/names/n2001130358 | |
| 856 | 4 | 0 | |u https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=3092007 |y eBooks on EBSCOhost |
| 929 | |a oclccm | ||
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| 928 | |t Library of Congress classification |a RB155.5 |l Online |c UC-FullText |u https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=3092007 |z eBooks on EBSCOhost |g ebooks |i 13508315 | ||