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Lipoprotein lipase deficiency in an infant.
MedLine Citation:
PMID:  22080683     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.
Authors:
Sheela Nampoothiri; Natasha Radhakrishnan; Andrea Schwentek; Michael Marcus Hoffmann
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  48     ISSN:  0974-7559     ISO Abbreviation:  Indian Pediatr     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-11-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  805-6     Citation Subset:  IM    
Affiliation:
Departments of Pediatric Genetics and *Ophthalmology, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala; and University Medical Center, Division of Clinical Chemistry, Hugstetter Str. 55, D-79106 Freiburg i. Br, Germany. Correspondence to: Sheela Nampoothiri, Consultant, Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin 682041, Kerala, India. sheeladr@gmail.com.
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