menu

Research Papers

If you come across more articles about LPLD/FCS please let us know here

NCBI Resources, GeneReviews
Familial Lipoprotein Lipase Deficiency, John D Brunzell, MD
http://www.ncbi.nlm.nih.gov/books/NBK1308/

American Heart Association
Intramuscular Administration of AAV1-Lipoprotein LipaseS447X Lowers Triglycerides in lipoprotein Lipase-Deficient Patients
http://atvb.ahajournals.org/content/28/12/2303.short

The New England Journal of Medicine
Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene
Pascale Benlian, M.D., Ph.D., Jean Luc De Gennes, M.D., Luc Foubert, M.D., Hanfang Zhang, Ph.D., S. Eric Gagné, M.Sc., and Michael Hayden, M.B., Ch.B., Ph.D.
http://www.nejm.org/doi/full/10.1056/nejm199609193351203

Gene Therapy
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial
D Gaudet1,2, J Méthot1,2, S Déry1, D Brisson1,2, C Essiembre1, G Tremblay1, K Tremblay1,2, J de Wal3, J Twisk3, N van den Bulk3, V Sier-Ferreira3 and S van Deventer3
http://www.nature.com/gt/journal/v20/n4/abs/gt201243a.html

Current Opinion on Lipidology
Gene therapy for lipoprotein lipase deficiency
Gaudet, Daniela; Méthot, Juliea; Kastelein, Johnb
http://journals.lww.com/co-lipidology/Abstract/2012/08000/Gene_therapy_for_lipoprotein_lipase_deficiency.7.aspx

Informa Healthcare
Safety profile of recombinant adeno-associated viral vectors: focus on alipogene tiparvovec (Glybera®)
http://informahealthcare.com/doi/abs/10.1586/17512433.2014.852065

Journal of Biological Chemistry
Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family
F Faustinella,  A Chang,  J P Van Biervliet,  M Rosseneu, N Vinaimont, L C Smith, S H Chen, and L Chan
http://www.jbc.org/content/266/22/14418.abstract?sid=e6361d71-0521-4495-b037-4b0fafb8b706

Journal of Clinical Investigation
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
T GotodaN YamadaM KawamuraK KozakiN MoriS IshibashiH ShimanoF TakakuY YazakiY Furuichi
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC295753/

American Diabetes Association
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency.
G MingroneF L HenriksenA V GrecoL N KroghE Capristo, A GastaldelliM CastagnetoE FerranniniG Gasbarrini and H Beck-Nielsen
http://diabetes.diabetesjournals.org/content/48/6/1258.short

The Journal of Clinical Endocrinology & Metabolism
Prevention of Recurrent Pancreatitis in Familial Lipoprotein Lipase Deficiency with High-Dose Antioxidant Therapy
A. P. HeaneyN. SharerB. RamehJ. M. Braganza, and P.N. Durrington
http://press.endocrine.org/doi/abs/10.1210/jcem.84.4.5617

ScienceDirect, The Journal of Pediatrics, Volume 133, Issue 3, September 1998, Pages 417-423
Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study
Juan Carlos Feoli-Fonseca, MD, Emile Lévy, PhD, Muriel Godard, RD, Marie Lambert, MD
http://www.sciencedirect.com/science/article/pii/S002234769870280X

Dovepress, Volume 2014:4, May 2014, Pages 47-54
An update on gene therapy for the treatment of lipoprotein lipase deficiency
Andrew E. Libby, Hong Wang
http://www.dovepress.com/an-update-on-gene-therapy-for-the-treatment-of-lipoprotein-lipase-defi-peer-reviewed-article-ODRR

Journal of Clinical Lipidology, May-June 2014, Volume 8, Issue 3, Pages 287-295
Genotype-phenotype relationships in patients with type I hyperlipoproteinemia
Neema Chokshi, MD, Sarah D. Blumenschein, MD, Zahid Ahmad, MD, Abhimanyu Garg, MD
http://www.lipidjournal.com/article/S1933-2874(14)00045-2/abstract

Journal of Clinical Lipidology, November-December 2014, Volume 8, Issue 6, Pages 635-639
Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1
Zahid Ahmad, MD, Don P. Wilson, MD, FNLA
http://www.lipidjournal.com/article/S1933-2874(14)00314-6/abstract

Nature Reviews Endocrinology, 11, 352-362 (2015) | doi: 10.1038/nrendo.2015.26. Published online 03 March 2015
Chylomicronaemia-current diagnosis and future therapies
Amanda J. Brahm & Robert A. Hegele http://www.nature.com/nrendo/journal/v11/n6/full/nrendo.2015.26.html

The New England Journal of Medicine, 2015; 373:438-447, July 30, 2015, DOI: 10.1056/NEJMoa1400283
Daniel Gaudet, M.D., Ph.D., Veronica J. Alexander, Ph.D., Brenda F. Baker, Ph.D., Diane Brisson, Ph.D., Karine Tremblay, Ph.D., Walter Singleton, M.D., Richard S. Geary, Ph.D., Steven G. Hughes, M.B., B.S., Nicholas J. Viney, B.Sc., Mark J. Graham, M.S., Rosanne M. Crooke, Ph.D., Joseph L. Witztum, M.D., John D. Brunzell, M.D., and John J.P. Kastelein, M.D., Ph.D.
Antisense Inhibition of Apolipoprotein C-III in Patients with Hypertriglyceridemia
http://www.nejm.org/doi/full/10.1056/NEJMoa1400283

Prevention of Recurrent Pancreatitis in Familial Lipoprotein Lipase Deficiency with High-Dose Antioxidant Therapy
A. P. HEANEY, N. SHARER, B. RAMEH, J. M. BRAGANZA, AND P. N. DURRINGTON

A Randomized Controlled Trial of Antioxidant Supplementation for Pain Relief in Patients With Chronic Pancreatitis
Gareth R. Kirk, M.D., F.R.C.S., Jonathan S. White, B.Med.Sci.(Hons), Ph.D., F.R.C.S. (Gen Surg), Lloyd McKie, M.D., F.R.C.S., Mike Stevenson, B.Sc. (Hons), F.S.S., CDip.A.F., P.G.C.H.E.T., Ian Young, B.Sc., M.D., F.R.C.P., F.R.C.Path, W.D. Barry Clements, B.Sc.,
M.D., F.R.C.S., Brian J. Rowlands, M.D., F.R.C.S., F.A.C.S.

Combined Antioxidant Therapy Reduces Pain and Improves Quality of Life in Chronic Pancreatitis
Gareth R. Kirk, M.D., F.R.C.S., Jonathan S. White, B.Med.Sci.(Hons), Ph.D., F.R.C.S. (Gen Surg), Lloyd McKie, M.D., F.R.C.S., Mike Stevenson, B.Sc. (Hons), F.S.S., CDip.A.F., P.G.C.H.E.T., Ian Young, B.Sc., M.D., F.R.C.P., F.R.C.Path, W.D. Barry Clements, B.Sc.,
M.D., F.R.C.S., Brian J. Rowlands, M.D., F.R.C.S., F.A.C.S.

Yoga: A tool for improving the quality of life in chronic pancreatitis
World Journal of Gastroenterology ISSN 1007-9327, 2007 January 21; 13(3): 391-397
Surinder Sareen, Vinita Kumari, Karaminder Singh Gajebasia, Nimanpreet Kaur Gajebasia