Literature DB >> 15758547

Familial chylomicronemia syndrome.

M K Mohandas1, J Jemila, A S Ajith Krishnan, T Thomas George.   

Abstract

Familial chylomicronemia syndrome is a group of rare genetic disorders characterized by deficient activity of an enzyme lipoprotein lipase or apo-protein C-II deficiency. Incidence is 1 out of 1,000,000. Alternative names to this syndrome are Type I hyper lipoproteinemia and familial lipoprotein lipase deficiency.

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Year:  2005        PMID: 15758547

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  6 in total

1.  Familial chylomicronemia syndrome- an uncommon cause of acute pancreatitis with encephalopathy.

Authors:  Sunil Kumar Kota; Siva Krishna Kota; Sruti Jammula; Kirtikumar D Modi
Journal:  Indian J Gastroenterol       Date:  2012-09

2.  Hypertrophic cardiomyopathy with familial chylomicronemia syndrome: is it an incidental finding or a new association?

Authors:  Mehmet Gündüz; Nevra Koç; Eda Özaydın; Filiz Ekici
Journal:  Indian J Pediatr       Date:  2014-02-05       Impact factor: 1.967

Review 3.  Chylomicronaemia--current diagnosis and future therapies.

Authors:  Amanda J Brahm; Robert A Hegele
Journal:  Nat Rev Endocrinol       Date:  2015-03-03       Impact factor: 43.330

4.  An unusual case of familial hyperlipidaemia.

Authors:  Renu Nagar; Uma Arora
Journal:  Indian J Clin Biochem       Date:  2008-10-01

5.  Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Authors:  Dinesha Maduri Vidanapathirana; Thushara Rodrigo; Samantha Waidyanatha; Eresha Jasinge; Amanda J Hooper; John R Burnett
Journal:  Glob Pediatr Health       Date:  2017-06-28

6.  Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

Authors:  Angela Ganan Soto; Adam McIntyre; Sungeeta Agrawal; Shara R Bialo; Robert A Hegele; Charlotte M Boney
Journal:  Lipids Health Dis       Date:  2015-09-04       Impact factor: 3.876

  6 in total

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