Current strategies in the management of lysosomal storage diseases

Seminars in Pediatric Neurology
Bryce A Heese

Abstract

Lysosomal storage diseases (LSDs) comprise a diverse group of over 40 clinically distinct inherited disorders. LSDs are progressive and may present at any age affecting any number of tissues and organ systems. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective. However, limitations in these therapies still exist. To date, there is no cure for any of the LSDs. Early diagnosis and treatment is essential for optimal treatment; this lends support to implementing mass newborn screening for LSDs.

References

Mar 7, 2003·Bone Marrow Transplantation·C PetersUNKNOWN Working Party on Inborn Errors, European Bone Marrow Transplant Group
Jul 2, 2003·Nature Reviews. Cancer·Donald B KohnJoseph C Glorioso
Jun 30, 2004·Trends in Endocrinology and Metabolism : TEM·Virginie BernierMichel Bouvier
Jan 31, 2006·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Paul L MartinJoanne Kurtzberg
Mar 7, 2006·Molecular Genetics and Metabolism·Ernest Beutler
Apr 8, 2006·Molecular Genetics and Metabolism·Peter J MeikleJohn J Hopwood
Jun 2, 2006·The Journal of Pediatrics·Deborah MarsdenHarvey L Levy
Jun 10, 2006·Journal of Inherited Metabolic Disease·Janice M Fletcher
Jun 10, 2006·Journal of Inherited Metabolic Disease·Jaap Jan Boelens
Jun 10, 2006·Journal of Inherited Metabolic Disease·J E Wraith
Jun 10, 2006·Journal of Inherited Metabolic Disease·Johannes M F G AertsMario Maas
Dec 21, 2006·Annals of Internal Medicine·Maryam BanikazemiUNKNOWN Fabry Disease Clinical Trial Study Group
Feb 27, 2007·Molecular Genetics and Metabolism·Patricia DicksonEmil Kakkis
Aug 11, 2007·Lancet Neurology·Marc C PattersonJames E Wraith
Nov 14, 2007·Journal of Applied Genetics·Joanna Jakóbkiewicz-BaneckaGrzegorz Wegrzyn

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Citations

May 27, 2011·Journal of Inherited Metabolic Disease·Ursula MatteRoberto Giugliani
Apr 27, 2011·The Journal of Biological Chemistry·Mustafa KamaniClifford Lingwood
Jun 30, 2011·Molecular Therapy : the Journal of the American Society of Gene Therapy·Jennifer B NietupskiRonald K Scheule
Jan 11, 2012·Rheumatology·Vassili Valayannopoulos, Frits A Wijburg
Nov 17, 2010·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Matan RapoportHaya Lorberboum-Galski
Jun 24, 2014·Molecular Genetics and Metabolism Reports·Pravin PatelShunji Tomatsu
Jul 26, 2014·Molecular Genetics and Metabolism Reports·Pravin PatelShunji Tomatsu
Sep 4, 2009·Pediatric Annals·Elizabeth R Lim-Melia, David F Kronn
Oct 21, 2016·Progress in Neurobiology·Jessica M KellyMark E Byrne
Jun 16, 2009·Journal of Developmental and Behavioral Pediatrics : JDBP·Carol C WeitzmanMartin T Stein
May 7, 2010·Journal of Developmental and Behavioral Pediatrics : JDBP·Carol C WeitzmanMartin T Stein
Jan 12, 2020·Clinical & Experimental Ophthalmology·Esteban A GonzalezGuilherme Baldo
Sep 6, 2011·Current Opinion in Neurology·Claude Desnuelle, Leonardo Salviati
Jun 24, 2010·Ultrastructural Pathology·Valentina PapaGiovanna Cenacchi

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