Malattia da accumulo lisosomiale (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Malattia da accumulo lisosomiale" in Italian language version.

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Table 7-6 in: Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson, Robbins Basic Pathology, Philadelphia, Saunders, 2007, ISBN 1-4160-2973-7. 8th edition.
Shah AJ, Kapoor N, Crooks GM, et al., Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B, in Pediatrics, vol. 116, n. 4, ottobre 2005, pp. 1022–5, DOI:10.1542/peds.2005-0867, PMID 16199719.

doi.org

dx.doi.org

Dziedzic D, Wegrzyn G, Jakóbkiewicz-Banecka J, Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease, in Eur. J. Hum. Genet., vol. 18, n. 2, febbraio 2010, pp. 200–5, DOI:10.1038/ejhg.2009.144, PMC 2987185, PMID 19690584.
Butters TD, Mellor HR, Narita K, Dwek RA, Platt FM, Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders, in Philos. Trans. R. Soc. Lond., B, Biol. Sci., vol. 358, n. 1433, maggio 2003, pp. 927–45, DOI:10.1098/rstb.2003.1278, PMC 1693180, PMID 12803927.
Lee WC, Kang D, Causevic E, Herdt AR, Eckman EA, Eckman CB, Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones, in J. Neurosci., vol. 30, n. 16, aprile 2010, pp. 5489–97, DOI:10.1523/JNEUROSCI.6383-09.2010, PMID 20410102.
Clarke JT, Iwanochko RM, Enzyme replacement therapy of Fabry disease, in Mol. Neurobiol., vol. 32, n. 1, 2005, pp. 43–50, DOI:10.1385/MN:32:1:043, PMID 16077182.
Barker PC, Pasquali SK, Darty S, et al., Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy, in Mol. Genet. Metab., vol. 101, n. 4, dicembre 2010, pp. 332–7, DOI:10.1016/j.ymgme.2010.07.011, PMID 20875764.
Meuleman N, Vanhaelen G, Tondreau T, et al., Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report, in Haematologica, vol. 93, n. 1, gennaio 2008, pp. e11–3, DOI:10.3324/haematol.11802, PMID 18166768.
Garcia-Rivera MF, Colvin-Wanshura LE, Nelson MS, et al., Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy, in Brain Res. Bull., vol. 74, n. 6, novembre 2007, pp. 429–38, DOI:10.1016/j.brainresbull.2007.07.018, PMC 2148227, PMID 17920451.
Shah AJ, Kapoor N, Crooks GM, et al., Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B, in Pediatrics, vol. 116, n. 4, ottobre 2005, pp. 1022–5, DOI:10.1542/peds.2005-0867, PMID 16199719.
Butters TD, Dwek RA, Platt FM, Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses, in Glycobiology, vol. 15, n. 10, ottobre 2005, pp. 43R–52R, DOI:10.1093/glycob/cwi076, PMID 15901676.
Maegawa GH, Banwell BL, Blaser S, et al., Substrate reduction therapy in juvenile GM2 gangliosidosis, in Mol. Genet. Metab., vol. 98, n. 1-2, 2009, pp. 215–24, DOI:10.1016/j.ymgme.2009.06.005, PMID 19595619.
Cox-Brinkman J, van Breemen MJ, van Maldegem BT, et al., Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III, in J. Inherit. Metab. Dis., vol. 31, n. 6, dicembre 2008, pp. 745–52, DOI:10.1007/s10545-008-0873-2, PMID 18850301.
Ponder KP, Haskins ME, Gene therapy for mucopolysaccharidosis, in Expert Opin Biol Ther, vol. 7, n. 9, 2007, pp. 1333–45, DOI:10.1517/14712598.7.9.1333, PMID 17727324.

medscape.com

emedicine.medscape.com

eMedicine Specialties > Neurology > Pediatric Neurology > Lysosomal Storage Disease Author: Noah S Scheinfeld, MD, JD, FAAD. Coauthor(s): Rowena Emilia Tabamo, MD; Brian Klein, MD. Updated: Sep 25, 2008

nih.gov

ncbi.nlm.nih.gov

de Ruijter J, Valstar MJ, Wijburg FA, Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies, in Curr Pharm Biotechnol, gennaio 2011, PMID 21235449.
Dziedzic D, Wegrzyn G, Jakóbkiewicz-Banecka J, Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease, in Eur. J. Hum. Genet., vol. 18, n. 2, febbraio 2010, pp. 200–5, DOI:10.1038/ejhg.2009.144, PMC 2987185, PMID 19690584.
Harmanci O, Bayraktar Y, Gaucher disease: new developments in treatment and etiology, in World J. Gastroenterol., vol. 14, n. 25, luglio 2008, pp. 3968–73, PMC 2725334, PMID 18609679.
(ES) Gutiérrez-Solana LG, [Advances in the treatment of lysosomal diseases in infancy], in Rev Neurol, 43 Suppl 1, ottobre 2006, pp. S137–44, PMID 17061181.
Butters TD, Mellor HR, Narita K, Dwek RA, Platt FM, Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders, in Philos. Trans. R. Soc. Lond., B, Biol. Sci., vol. 358, n. 1433, maggio 2003, pp. 927–45, DOI:10.1098/rstb.2003.1278, PMC 1693180, PMID 12803927.
Lee WC, Kang D, Causevic E, Herdt AR, Eckman EA, Eckman CB, Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones, in J. Neurosci., vol. 30, n. 16, aprile 2010, pp. 5489–97, DOI:10.1523/JNEUROSCI.6383-09.2010, PMID 20410102.
Suzuki Y, Ogawa S, Sakakibara Y, Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities, in Perspect Medicin Chem, vol. 3, 2009, pp. 7–19, PMC 2754921, PMID 19812739.
Clarke JT, Iwanochko RM, Enzyme replacement therapy of Fabry disease, in Mol. Neurobiol., vol. 32, n. 1, 2005, pp. 43–50, DOI:10.1385/MN:32:1:043, PMID 16077182.
Bruni S, Loschi L, Incerti C, Gabrielli O, Coppa GV, Update on treatment of lysosomal storage diseases, in Acta Myol, vol. 26, n. 1, 2007, pp. 87–92, PMID 17915580.
Mehta A, Beck M, Sunder-Plassmann G, et al., PMID 21290708.
Barker PC, Pasquali SK, Darty S, et al., Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy, in Mol. Genet. Metab., vol. 101, n. 4, dicembre 2010, pp. 332–7, DOI:10.1016/j.ymgme.2010.07.011, PMID 20875764.
Meuleman N, Vanhaelen G, Tondreau T, et al., Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report, in Haematologica, vol. 93, n. 1, gennaio 2008, pp. e11–3, DOI:10.3324/haematol.11802, PMID 18166768.
Garcia-Rivera MF, Colvin-Wanshura LE, Nelson MS, et al., Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy, in Brain Res. Bull., vol. 74, n. 6, novembre 2007, pp. 429–38, DOI:10.1016/j.brainresbull.2007.07.018, PMC 2148227, PMID 17920451.
Shah AJ, Kapoor N, Crooks GM, et al., Successful hematopoietic stem cell transplantation for Niemann-Pick disease type B, in Pediatrics, vol. 116, n. 4, ottobre 2005, pp. 1022–5, DOI:10.1542/peds.2005-0867, PMID 16199719.
Butters TD, Dwek RA, Platt FM, Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses, in Glycobiology, vol. 15, n. 10, ottobre 2005, pp. 43R–52R, DOI:10.1093/glycob/cwi076, PMID 15901676.
Maegawa GH, Banwell BL, Blaser S, et al., Substrate reduction therapy in juvenile GM2 gangliosidosis, in Mol. Genet. Metab., vol. 98, n. 1-2, 2009, pp. 215–24, DOI:10.1016/j.ymgme.2009.06.005, PMID 19595619.
Cox-Brinkman J, van Breemen MJ, van Maldegem BT, et al., Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III, in J. Inherit. Metab. Dis., vol. 31, n. 6, dicembre 2008, pp. 745–52, DOI:10.1007/s10545-008-0873-2, PMID 18850301.
Mehta A, Beck M, Sunder-Plassmann G, Cox TM, PMID 21290672.
Ponder KP, Haskins ME, Gene therapy for mucopolysaccharidosis, in Expert Opin Biol Ther, vol. 7, n. 9, 2007, pp. 1333–45, DOI:10.1517/14712598.7.9.1333, PMID 17727324.

oadoi.org

Lee WC, Kang D, Causevic E, Herdt AR, Eckman EA, Eckman CB, Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones, in J. Neurosci., vol. 30, n. 16, aprile 2010, pp. 5489–97, DOI:10.1523/JNEUROSCI.6383-09.2010, PMID 20410102.
Clarke JT, Iwanochko RM, Enzyme replacement therapy of Fabry disease, in Mol. Neurobiol., vol. 32, n. 1, 2005, pp. 43–50, DOI:10.1385/MN:32:1:043, PMID 16077182.
Barker PC, Pasquali SK, Darty S, et al., Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy, in Mol. Genet. Metab., vol. 101, n. 4, dicembre 2010, pp. 332–7, DOI:10.1016/j.ymgme.2010.07.011, PMID 20875764.
Meuleman N, Vanhaelen G, Tondreau T, et al., Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report, in Haematologica, vol. 93, n. 1, gennaio 2008, pp. e11–3, DOI:10.3324/haematol.11802, PMID 18166768.
Butters TD, Dwek RA, Platt FM, Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses, in Glycobiology, vol. 15, n. 10, ottobre 2005, pp. 43R–52R, DOI:10.1093/glycob/cwi076, PMID 15901676.
Maegawa GH, Banwell BL, Blaser S, et al., Substrate reduction therapy in juvenile GM2 gangliosidosis, in Mol. Genet. Metab., vol. 98, n. 1-2, 2009, pp. 215–24, DOI:10.1016/j.ymgme.2009.06.005, PMID 19595619.
Cox-Brinkman J, van Breemen MJ, van Maldegem BT, et al., Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III, in J. Inherit. Metab. Dis., vol. 31, n. 6, dicembre 2008, pp. 745–52, DOI:10.1007/s10545-008-0873-2, PMID 18850301.
Ponder KP, Haskins ME, Gene therapy for mucopolysaccharidosis, in Expert Opin Biol Ther, vol. 7, n. 9, 2007, pp. 1333–45, DOI:10.1517/14712598.7.9.1333, PMID 17727324.

omim.org

OMIM 607014.
OMIM 607016.
OMIM 607015.
OMIM 309900.
OMIM 309900.
OMIM 309920.
OMIM 252930.
OMIM 252940.
OMIM 253000.
OMIM 253010.
OMIM 252300.
OMIM 253200.
OMIM 253220.
OMIM 256550.
OMIM 252500.
OMIM 252600.
OMIM 252650.
OMIM 230500.
OMIM 230600.
OMIM 230650.
OMIM 272800.
OMIM 268800.
OMIM 272750.
OMIM 301500.
OMIM 230800.
OMIM 230900.
OMIM 231000.
OMIM 231005.
OMIM 608013.
OMIM 250100.
OMIM 249900.
OMIM 245200.
OMIM 245200.
OMIM 257200.
OMIM 607616.
OMIM 257220.
OMIM 607625.
OMIM 610539.
OMIM 228000.
OMIM 272200.
OMIM 248500.
OMIM 248510.
OMIM 230000.
OMIM 208400.
OMIM 609241.
OMIM 269920.
OMIM 604369.
OMIM 256540.
OMIM 256730.
OMIM 204500.
OMIM 204200.
OMIM 204300.
OMIM 162350.
OMIM 256731.
OMIM 601780.
OMIM 610951.
OMIM 600143.
OMIM 610003.
OMIM 609055.
OMIM 610127.
OMIM 265800.
OMIM 232300.
OMIM 219800.
OMIM 219750.
OMIM 278000.

web.archive.org

(DE) www.villa-metabolica.de (PDF), su villa-metabolica.de (archiviato dall'url originale il 16 agosto 2010).
(DE) Hoffnung bei genetischen Speicherkrankheiten - Springer Professional Media, Bereich Medizin, su springermedizin.at (archiviato dall'url originale il 10 novembre 2012).