Lysosomal storage disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Lysosomal storage disease" in English language version.

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archive.org

doi.org

  • Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018-10-01). "Lysosomal storage diseases". Nature Reviews Disease Primers. 4 (1): 27. doi:10.1038/s41572-018-0025-4. ISSN 2056-676X. PMID 30275469. S2CID 52896843.
  • Winchester B, Vellodi A, Young E (2000). "The molecular basis of lysosomal storage diseases and their treatment". Biochem. Soc. Trans. 28 (2): 150–4. doi:10.1042/bst0280150. PMID 10816117.
  • Meikle, P. J.; Hopwood, J. J.; Clague, A. E.; Carey, W. F. (20 January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–254. doi:10.1001/jama.281.3.249. ISSN 0098-7484. PMID 9918480. S2CID 14297661.
  • Navarrete-Martínez, Juana Inés; Limón-Rojas, Ana Elena; Gaytán-García, Maria de Jesús; Reyna-Figueroa, Jesús; Wakida-Kusunoki, Guillermo; Delgado-Calvillo, Ma. del Rocío; Cantú-Reyna, Consuelo; Cruz-Camino, Héctor; Cervantes-Barragán, David Eduardo (May 2017). "Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system". Molecular Genetics and Metabolism. 121 (1): 16–21. doi:10.1016/j.ymgme.2017.03.001. PMID 28302345.
  • Clarke JT, Iwanochko RM (2005). "Enzyme replacement therapy of Fabry disease". Mol. Neurobiol. 32 (1): 043–050. doi:10.1385/MN:32:1:043. PMID 16077182. S2CID 24240533.
  • Nagree, Murtaza S.; Scalia, Simone; McKillop, William M.; Medin, Jeffrey A. (2019-07-03). "An update on gene therapy for lysosomal storage disorders". Expert Opinion on Biological Therapy. 19 (7): 655–670. doi:10.1080/14712598.2019.1607837. ISSN 1471-2598. PMID 31056978. S2CID 145822883.
  • Ponder KP, Haskins ME (2007). "Gene therapy for mucopolysaccharidosis". Expert Opin Biol Ther. 7 (9): 1333–1345. doi:10.1517/14712598.7.9.1333. PMC 3340574. PMID 17727324.
  • McNeill, Alisdair; Magalhaes, Joana; Shen, Chengguo; Chau, Kai-Yin; Hughes, Derralyn; Mehta, Atul; Foltynie, Tom; Cooper, J. Mark; Abramov, Andrey Y. (2014-05-01). "Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells". Brain. 137 (5): 1481–1495. doi:10.1093/brain/awu020. ISSN 0006-8950. PMC 3999713. PMID 24574503.
  • Albin, Roger L.; Dauer, William T. (2014-05-01). "Magic shotgun for Parkinson's disease?". Brain. 137 (5): 1274–1275. doi:10.1093/brain/awu076. ISSN 0006-8950. PMID 24771397.
  • Fois, Giorgio; Hobi, Nina; Felder, Edward; Ziegler, Andreas; Miklavc, Pika; Walther, Paul; Radermacher, Peter; Haller, Thomas; Dietl, Paul (2015). "A new role for an old drug: Ambroxol triggers lysosomal exocytosis via pH-dependent Ca2+ release from acidic Ca2+ stores". Cell Calcium. 58 (6): 628–637. doi:10.1016/j.ceca.2015.10.002. PMID 26560688.

gaucherdisease.org

medscape.com

emedicine.medscape.com

nature.com

  • Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018-10-01). "Lysosomal storage diseases". Nature Reviews Disease Primers. 4 (1): 27. doi:10.1038/s41572-018-0025-4. ISSN 2056-676X. PMID 30275469. S2CID 52896843.

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018-10-01). "Lysosomal storage diseases". Nature Reviews Disease Primers. 4 (1): 27. doi:10.1038/s41572-018-0025-4. ISSN 2056-676X. PMID 30275469. S2CID 52896843.
  • Winchester B, Vellodi A, Young E (2000). "The molecular basis of lysosomal storage diseases and their treatment". Biochem. Soc. Trans. 28 (2): 150–4. doi:10.1042/bst0280150. PMID 10816117.
  • Meikle, P. J.; Hopwood, J. J.; Clague, A. E.; Carey, W. F. (20 January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–254. doi:10.1001/jama.281.3.249. ISSN 0098-7484. PMID 9918480. S2CID 14297661.
  • M, Fuller; PJ, Meikle; JJ, Hopwood (2006). "2. Epidemiology of lysosomal storage diseases: an overview". Fabry Disease: Perspectives from 5 Years of FOS. Oxford PharmaGenesis. ISBN 1-903539-03-X. PMID 21290699. NBK11603.
  • Navarrete-Martínez, Juana Inés; Limón-Rojas, Ana Elena; Gaytán-García, Maria de Jesús; Reyna-Figueroa, Jesús; Wakida-Kusunoki, Guillermo; Delgado-Calvillo, Ma. del Rocío; Cantú-Reyna, Consuelo; Cruz-Camino, Héctor; Cervantes-Barragán, David Eduardo (May 2017). "Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system". Molecular Genetics and Metabolism. 121 (1): 16–21. doi:10.1016/j.ymgme.2017.03.001. PMID 28302345.
  • Clarke JT, Iwanochko RM (2005). "Enzyme replacement therapy of Fabry disease". Mol. Neurobiol. 32 (1): 043–050. doi:10.1385/MN:32:1:043. PMID 16077182. S2CID 24240533.
  • Bruni S, Loschi L, Incerti C, Gabrielli O, Coppa GV (2007). "Update on treatment of lysosomal storage diseases". Acta Myol. 26 (1): 87–92. PMC 2949325. PMID 17915580.
  • Nagree, Murtaza S.; Scalia, Simone; McKillop, William M.; Medin, Jeffrey A. (2019-07-03). "An update on gene therapy for lysosomal storage disorders". Expert Opinion on Biological Therapy. 19 (7): 655–670. doi:10.1080/14712598.2019.1607837. ISSN 1471-2598. PMID 31056978. S2CID 145822883.
  • Ponder KP, Haskins ME (2007). "Gene therapy for mucopolysaccharidosis". Expert Opin Biol Ther. 7 (9): 1333–1345. doi:10.1517/14712598.7.9.1333. PMC 3340574. PMID 17727324.
  • McNeill, Alisdair; Magalhaes, Joana; Shen, Chengguo; Chau, Kai-Yin; Hughes, Derralyn; Mehta, Atul; Foltynie, Tom; Cooper, J. Mark; Abramov, Andrey Y. (2014-05-01). "Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells". Brain. 137 (5): 1481–1495. doi:10.1093/brain/awu020. ISSN 0006-8950. PMC 3999713. PMID 24574503.
  • Albin, Roger L.; Dauer, William T. (2014-05-01). "Magic shotgun for Parkinson's disease?". Brain. 137 (5): 1274–1275. doi:10.1093/brain/awu076. ISSN 0006-8950. PMID 24771397.
  • Fois, Giorgio; Hobi, Nina; Felder, Edward; Ziegler, Andreas; Miklavc, Pika; Walther, Paul; Radermacher, Peter; Haller, Thomas; Dietl, Paul (2015). "A new role for an old drug: Ambroxol triggers lysosomal exocytosis via pH-dependent Ca2+ release from acidic Ca2+ stores". Cell Calcium. 58 (6): 628–637. doi:10.1016/j.ceca.2015.10.002. PMID 26560688.

ncbi.nlm.nih.gov

ghr.nlm.nih.gov

semanticscholar.org

api.semanticscholar.org

  • Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018-10-01). "Lysosomal storage diseases". Nature Reviews Disease Primers. 4 (1): 27. doi:10.1038/s41572-018-0025-4. ISSN 2056-676X. PMID 30275469. S2CID 52896843.
  • Meikle, P. J.; Hopwood, J. J.; Clague, A. E.; Carey, W. F. (20 January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–254. doi:10.1001/jama.281.3.249. ISSN 0098-7484. PMID 9918480. S2CID 14297661.
  • Clarke JT, Iwanochko RM (2005). "Enzyme replacement therapy of Fabry disease". Mol. Neurobiol. 32 (1): 043–050. doi:10.1385/MN:32:1:043. PMID 16077182. S2CID 24240533.
  • Nagree, Murtaza S.; Scalia, Simone; McKillop, William M.; Medin, Jeffrey A. (2019-07-03). "An update on gene therapy for lysosomal storage disorders". Expert Opinion on Biological Therapy. 19 (7): 655–670. doi:10.1080/14712598.2019.1607837. ISSN 1471-2598. PMID 31056978. S2CID 145822883.

worldcat.org

search.worldcat.org

  • Platt, Frances M.; d'Azzo, Alessandra; Davidson, Beverly L.; Neufeld, Elizabeth F.; Tifft, Cynthia J. (2018-10-01). "Lysosomal storage diseases". Nature Reviews Disease Primers. 4 (1): 27. doi:10.1038/s41572-018-0025-4. ISSN 2056-676X. PMID 30275469. S2CID 52896843.
  • Meikle, P. J.; Hopwood, J. J.; Clague, A. E.; Carey, W. F. (20 January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–254. doi:10.1001/jama.281.3.249. ISSN 0098-7484. PMID 9918480. S2CID 14297661.
  • Boron, W.; Boulpaep, E., eds. (2012). Medical Physiology (2nd ed.). Saunders Press. ISBN 978-1-4377-1753-2. OCLC 1083396596.
  • Nagree, Murtaza S.; Scalia, Simone; McKillop, William M.; Medin, Jeffrey A. (2019-07-03). "An update on gene therapy for lysosomal storage disorders". Expert Opinion on Biological Therapy. 19 (7): 655–670. doi:10.1080/14712598.2019.1607837. ISSN 1471-2598. PMID 31056978. S2CID 145822883.
  • McNeill, Alisdair; Magalhaes, Joana; Shen, Chengguo; Chau, Kai-Yin; Hughes, Derralyn; Mehta, Atul; Foltynie, Tom; Cooper, J. Mark; Abramov, Andrey Y. (2014-05-01). "Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells". Brain. 137 (5): 1481–1495. doi:10.1093/brain/awu020. ISSN 0006-8950. PMC 3999713. PMID 24574503.
  • Albin, Roger L.; Dauer, William T. (2014-05-01). "Magic shotgun for Parkinson's disease?". Brain. 137 (5): 1274–1275. doi:10.1093/brain/awu076. ISSN 0006-8950. PMID 24771397.