Lysosomal storage diseases: natural history and ethical and economic aspects

Molecular Genetics and Metabolism
Ernest Beutler

Abstract

Potential treatment for lysosomal diseases now includes enzyme replacement therapy, substrate reduction therapy, and chaperone therapy. The first two of these have been implemented commercially, and the spectrum of diseases that are now treatable has expanded from Gaucher disease to include several other disorders. Treatment of these diseases is extremely costly. We explore some of the reasons for the high cost and discuss how, by proper selection of patients and appropriate dosing, the economic burden on society of treating these disease may be ameliorated, at least in part. However, the cost of treating rare diseases is a growing problem that society needs to address.

References

Apr 21, 1977·The New England Journal of Medicine
May 1, 1992·Pediatric Research·S FalletG A Grabowski
Mar 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·N W BartonR O Brady
Sep 1, 1969·The Journal of School Health·P Agran
Jun 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·E Beutler
Jan 10, 1998·American Journal of Obstetrics and Gynecology·D ElsteinA Zimran
Jun 6, 1998·Blood Cells, Molecules & Diseases·H IdaY Eto
Oct 24, 2000·Blood Cells, Molecules & Diseases·G AltarescuN W Barton
Oct 24, 2000·Blood Cells, Molecules & Diseases·E Beutler
Jan 2, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Karen A GrinzaidLouis J Elsas
Dec 17, 2003·European Journal of Pediatrics·Antonio BaldellouAshok Vellodi
Mar 24, 2005·Health Care Management Science·Sheldon H JacobsonTamana Karnani

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Citations

Aug 3, 2007·Proceedings of the National Academy of Sciences of the United States of America·Wei ZhengEllen Sidransky
Jul 9, 2008·World Journal of Gastroenterology : WJG·Ozgur Harmanci, Yusuf Bayraktar
Sep 24, 2009·Biologics : Targets & Therapy·Deborah Elstein, Ari Zimran
Jan 19, 2008·Expert Reviews in Molecular Medicine·Lorne A Clarke
Nov 17, 2007·Journal of Inherited Metabolic Disease·Ari Zimran, Deborah Elstein
Jul 11, 2013·Orphanet Journal of Rare Diseases·Mireia Raluy-CalladoIngela Wiklund
Jan 14, 2012·Proceedings of the Japan Academy. Series B, Physical and Biological Sciences·Satoshi Ishii
Dec 17, 2014·Expert Opinion on Drug Delivery·Daniel A WolfWalter C Low
Oct 15, 2010·Expert Opinion on Investigational Drugs·B E SmidC E M Hollak
Nov 21, 2014·Molecular Genetics and Metabolism·Elena L Aronovich, Perry B Hackett
Apr 25, 2012·Molecular Genetics and Metabolism·Carmen E MacsaiSharon Byers
Jan 18, 2012·Medicina clínica·Miguel Pocoví
Sep 4, 2009·Pediatric Annals·Elizabeth R Lim-Melia, David F Kronn
Dec 17, 2008·Molecular Genetics and Metabolism·Catherine Brunel-GuittonMarie Lambert
Aug 19, 2008·Seminars in Pediatric Neurology·Bryce A Heese
Apr 16, 2008·The Journal of Pediatrics·David J ComanMartin B Delatycki
Oct 6, 2015·Journal of Controlled Release : Official Journal of the Controlled Release Society·Vladimir V ShuvaevVladimir R Muzykantov
Jul 24, 2007·Current Opinion in Chemical Biology·Terry D Butters
Nov 7, 2006·Molecular Genetics and Metabolism·Ellen SidranskyEdward I Ginns
Feb 21, 2009·American Journal of Hematology·Ari ZimranDeborah Elstein
May 28, 2008·Acta Paediatrica. Supplement·Frances M Platt, Mylvaganam Jeyakumar
Jul 28, 2007·British Journal of Haematology·Ernest Beutler
Oct 1, 2009·Human Mutation·Tse Siang Kang, Raymond C Stevens
Oct 8, 2013·The Biochemical Journal·Atsumi TaguchiSatoshi Ishii
Oct 24, 2012·Journal of Biomedicine & Biotechnology·Juliana Branco NovoPaulo Lee Ho
Jul 17, 2008·Expert Opinion on Pharmacotherapy·Neal J Weinreb
Sep 27, 2012·Expert Opinion on Pharmacotherapy·Carin M van GelderArnold J J Reuser
Dec 27, 2011·Chemistry & Biology·Abigail I GuceScott C Garman
May 5, 2016·Annals of the New York Academy of Sciences·Miao XuElizabeth A Ottinger
Aug 29, 2013·Journal of Biomolecular Screening·Miao XuWei Zheng
Jan 20, 2017·Texas Heart Institute Journal·Jaime Silva-GburekJohn L Jefferies
Nov 15, 2011·Indian Pediatrics·Ranjana BandyopadhyayPranab K Maity
Nov 21, 2012·International Journal of Molecular Medicine·Giancarlo ParentiMariacarolina Salerno
Jul 1, 2017·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Adeline A Lau, Kim M Hemsley
Jun 25, 2020·Advanced Drug Delivery Reviews·Patrick M GlassmanVladimir R Muzykantov

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