Gaucher's disease (English Wikipedia)

Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S (2016). "Gaucher Disease: Clinical, Biological and Therapeutic Aspects". Pathobiology. 83 (1): 13–23. doi:10.1159/000440865. PMID 26588331.
McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH (August 2012). "A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers". Journal of Neurology, Neurosurgery, and Psychiatry. 83 (8): 853–4. doi:10.1136/jnnp-2012-302402. PMC 3927562. PMID 22577228.
Grabowski GA (October 2008). "Phenotype, diagnosis, and treatment of Gaucher's disease". Lancet. 372 (9645): 1263–71. doi:10.1016/S0140-6736(08)61522-6. PMID 19094956. S2CID 25221799.
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S (December 2008). "Life expectancy in Gaucher disease type 1". American Journal of Hematology. 83 (12): 896–900. doi:10.1002/ajh.21305. PMC 3743399. PMID 18980271.
Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ (June 2000). "Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations". American Journal of Human Genetics. 66 (6): 1821–32. doi:10.1086/302946. PMC 1378046. PMID 10777718.
Simons K, Gruenberg J (November 2000). "Jamming the endosomal system: lipid rafts and lysosomal storage diseases". Trends in Cell Biology. 10 (11): 459–62. doi:10.1016/S0962-8924(00)01847-X. PMID 11050411.
Westbroek W, Gustafson AM, Sidransky E (September 2011). "Exploring the link between glucocerebrosidase mutations and parkinsonism". Trends in Molecular Medicine. 17 (9): 485–93. doi:10.1016/j.molmed.2011.05.003. PMC 3351003. PMID 21723784.
Hein LK, Meikle PJ, Hopwood JJ, Fuller M (December 2007). "Secondary sphingolipid accumulation in a macrophage model of Gaucher disease". Molecular Genetics and Metabolism. 92 (4): 336–45. doi:10.1016/j.ymgme.2007.08.001. PMID 17881272.
Batta G, Soltész L, Kovács T, Bozó T, Mészár Z, Kellermayer M, Szöllősi J, Nagy P (January 2018). "Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease". Scientific Reports. 8 (1): 157. Bibcode:2018NatSR...8..157B. doi:10.1038/s41598-017-18405-8. PMC 5760709. PMID 29317695.
Grabowski GA (2012). "Gaucher disease and other storage disorders". Hematology. American Society of Hematology. Education Program. 2012: 13–8. doi:10.1182/asheducation.v2012.1.13.3797921. PMID 23233555.
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R (November 2004). "Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews". The New England Journal of Medicine. 351 (19): 1972–7. doi:10.1056/NEJMoa033277. PMID 15525722.
Arends M, van Dussen L, Biegstraaten M, Hollak CE (June 2013). "Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature". British Journal of Haematology. 161 (6): 832–42. doi:10.1111/bjh.12335. PMID 23594419.
Thomas AS, Mehta A, Hughes DA (May 2014). "Gaucher disease: haematological presentations and complications". British Journal of Haematology. 165 (4): 427–40. doi:10.1111/bjh.12804. PMID 24588457.
Ayto R, Hughes DA (2013). "Gaucher disease and myeloma". Critical Reviews in Oncogenesis. 18 (3): 247–68. doi:10.1615/critrevoncog.2013006061. PMID 23510067.
Barth BM, Shanmugavelandy SS, Tacelosky DM, Kester M, Morad SA, Cabot MC (2013). "Gaucher's disease and cancer: a sphingolipid perspective". Critical Reviews in Oncogenesis. 18 (3): 221–34. doi:10.1615/critrevoncog.2013005814. PMC 3604879. PMID 23510065.
Nagral A (March 2014). "Gaucher disease". Journal of Clinical and Experimental Hepatology. 4 (1): 37–50. doi:10.1016/j.jceh.2014.02.005. PMC 4017182. PMID 25755533.
Bennett LL, Mohan D (September 2013). "Gaucher disease and its treatment options". The Annals of Pharmacotherapy. 47 (9): 1182–93. doi:10.1177/1060028013500469. PMID 24259734. S2CID 10092272.
Dreborg S, Erikson A, Hagberg B (March 1980). "Gaucher disease--Norrbottnian type. I. General clinical description". European Journal of Pediatrics. 133 (2): 107–18. doi:10.1007/BF00441578. PMID 7363908. S2CID 12375149.
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM (March 2015). "Enzyme replacement and substrate reduction therapy for Gaucher disease". The Cochrane Database of Systematic Reviews. 2015 (3): CD010324. doi:10.1002/14651858.CD010324.pub2. PMC 8923052. PMID 25812601.
Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, Development and Therapy. 6: 81–106. doi:10.2147/DDDT.S14395. PMC 3340106. PMID 22563238.
Brady RO, Kanfer JN, Shapiro D (January 1965). "Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease". Biochemical and Biophysical Research Communications. 18 (2): 221–5. doi:10.1016/0006-291X(65)90743-6. PMID 14282020.

europa.eu

ema.europa.eu

European Medicines Agency. Human Medicines Database. Zavesca (miglustat) Archived 2016-01-07 at the Wayback Machine Page Accessed 1 September 2014.
European Medicines Agency 1 April 2003 Scientific discussion related to approval of Zavesca Archived 2015-09-24 at the Wayback Machine.

gaucher-institute.com

"Chitotriosidase | Gaucher Institute". www.gaucher-institute.com. Retrieved 2022-03-13.

gaucher.org.uk

[1] Archived September 24, 2006, at the Wayback Machine

gaucherdisease.org

Gaucher Disease at National Gaucher Foundation. Retrieved June 2012
"Gaucher Disease Genetics | About Gaucher Disease | National Gaucher Foundation". National Gaucher Foundation. Retrieved 2016-11-16.

harvard.edu

ui.adsabs.harvard.edu

Batta G, Soltész L, Kovács T, Bozó T, Mészár Z, Kellermayer M, Szöllősi J, Nagy P (January 2018). "Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease". Scientific Reports. 8 (1): 157. Bibcode:2018NatSR...8..157B. doi:10.1038/s41598-017-18405-8. PMC 5760709. PMID 29317695.

medicalnewstoday.com

"Shire Announces FDA Approval Of VPRIV(TM) (velaglucerase Alfa For Injection) For The Treatment Of Type I Gaucher Disease". Medicalnewstoday.com. Archived from the original on June 13, 2011. Retrieved 2012-08-13.

nih.gov

pubmed.ncbi.nlm.nih.gov

Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E (October 1991). "High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews". American Journal of Human Genetics. 49 (4): 855–9. PMC 1683177. PMID 1897529.
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S (2016). "Gaucher Disease: Clinical, Biological and Therapeutic Aspects". Pathobiology. 83 (1): 13–23. doi:10.1159/000440865. PMID 26588331.
McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH (August 2012). "A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers". Journal of Neurology, Neurosurgery, and Psychiatry. 83 (8): 853–4. doi:10.1136/jnnp-2012-302402. PMC 3927562. PMID 22577228.
Grabowski GA (October 2008). "Phenotype, diagnosis, and treatment of Gaucher's disease". Lancet. 372 (9645): 1263–71. doi:10.1016/S0140-6736(08)61522-6. PMID 19094956. S2CID 25221799.
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S (December 2008). "Life expectancy in Gaucher disease type 1". American Journal of Hematology. 83 (12): 896–900. doi:10.1002/ajh.21305. PMC 3743399. PMID 18980271.
Dahl N, Lagerström M, Erikson A, Pettersson U (August 1990). "Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene". American Journal of Human Genetics. 47 (2): 275–8. PMC 1683716. PMID 2378352.
Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ (June 2000). "Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations". American Journal of Human Genetics. 66 (6): 1821–32. doi:10.1086/302946. PMC 1378046. PMID 10777718.
Sidransky E (October 2012). "Gaucher disease: insights from a rare Mendelian disorder". Discovery Medicine. 14 (77): 273–81. PMC 4141347. PMID 23114583.
Simons K, Gruenberg J (November 2000). "Jamming the endosomal system: lipid rafts and lysosomal storage diseases". Trends in Cell Biology. 10 (11): 459–62. doi:10.1016/S0962-8924(00)01847-X. PMID 11050411.
Westbroek W, Gustafson AM, Sidransky E (September 2011). "Exploring the link between glucocerebrosidase mutations and parkinsonism". Trends in Molecular Medicine. 17 (9): 485–93. doi:10.1016/j.molmed.2011.05.003. PMC 3351003. PMID 21723784.
Hein LK, Meikle PJ, Hopwood JJ, Fuller M (December 2007). "Secondary sphingolipid accumulation in a macrophage model of Gaucher disease". Molecular Genetics and Metabolism. 92 (4): 336–45. doi:10.1016/j.ymgme.2007.08.001. PMID 17881272.
Batta G, Soltész L, Kovács T, Bozó T, Mészár Z, Kellermayer M, Szöllősi J, Nagy P (January 2018). "Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease". Scientific Reports. 8 (1): 157. Bibcode:2018NatSR...8..157B. doi:10.1038/s41598-017-18405-8. PMC 5760709. PMID 29317695.
Grabowski GA (2012). "Gaucher disease and other storage disorders". Hematology. American Society of Hematology. Education Program. 2012: 13–8. doi:10.1182/asheducation.v2012.1.13.3797921. PMID 23233555.
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R (November 2004). "Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews". The New England Journal of Medicine. 351 (19): 1972–7. doi:10.1056/NEJMoa033277. PMID 15525722.
Arends M, van Dussen L, Biegstraaten M, Hollak CE (June 2013). "Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature". British Journal of Haematology. 161 (6): 832–42. doi:10.1111/bjh.12335. PMID 23594419.
Thomas AS, Mehta A, Hughes DA (May 2014). "Gaucher disease: haematological presentations and complications". British Journal of Haematology. 165 (4): 427–40. doi:10.1111/bjh.12804. PMID 24588457.
Ayto R, Hughes DA (2013). "Gaucher disease and myeloma". Critical Reviews in Oncogenesis. 18 (3): 247–68. doi:10.1615/critrevoncog.2013006061. PMID 23510067.
Barth BM, Shanmugavelandy SS, Tacelosky DM, Kester M, Morad SA, Cabot MC (2013). "Gaucher's disease and cancer: a sphingolipid perspective". Critical Reviews in Oncogenesis. 18 (3): 221–34. doi:10.1615/critrevoncog.2013005814. PMC 3604879. PMID 23510065.
Nagral A (March 2014). "Gaucher disease". Journal of Clinical and Experimental Hepatology. 4 (1): 37–50. doi:10.1016/j.jceh.2014.02.005. PMC 4017182. PMID 25755533.
Bennett LL, Mohan D (September 2013). "Gaucher disease and its treatment options". The Annals of Pharmacotherapy. 47 (9): 1182–93. doi:10.1177/1060028013500469. PMID 24259734. S2CID 10092272.
Dreborg S, Erikson A, Hagberg B (March 1980). "Gaucher disease--Norrbottnian type. I. General clinical description". European Journal of Pediatrics. 133 (2): 107–18. doi:10.1007/BF00441578. PMID 7363908. S2CID 12375149.
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM (March 2015). "Enzyme replacement and substrate reduction therapy for Gaucher disease". The Cochrane Database of Systematic Reviews. 2015 (3): CD010324. doi:10.1002/14651858.CD010324.pub2. PMC 8923052. PMID 25812601.
Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, Development and Therapy. 6: 81–106. doi:10.2147/DDDT.S14395. PMC 3340106. PMID 22563238.
Brady RO, Kanfer JN, Shapiro D (January 1965). "Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease". Biochemical and Biophysical Research Communications. 18 (2): 221–5. doi:10.1016/0006-291X(65)90743-6. PMID 14282020.

ncbi.nlm.nih.gov

Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E (October 1991). "High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews". American Journal of Human Genetics. 49 (4): 855–9. PMC 1683177. PMID 1897529.
McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH (August 2012). "A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers". Journal of Neurology, Neurosurgery, and Psychiatry. 83 (8): 853–4. doi:10.1136/jnnp-2012-302402. PMC 3927562. PMID 22577228.
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S (December 2008). "Life expectancy in Gaucher disease type 1". American Journal of Hematology. 83 (12): 896–900. doi:10.1002/ajh.21305. PMC 3743399. PMID 18980271.
Dahl N, Lagerström M, Erikson A, Pettersson U (August 1990). "Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene". American Journal of Human Genetics. 47 (2): 275–8. PMC 1683716. PMID 2378352.
Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ (June 2000). "Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations". American Journal of Human Genetics. 66 (6): 1821–32. doi:10.1086/302946. PMC 1378046. PMID 10777718.
Sidransky E (October 2012). "Gaucher disease: insights from a rare Mendelian disorder". Discovery Medicine. 14 (77): 273–81. PMC 4141347. PMID 23114583.
Westbroek W, Gustafson AM, Sidransky E (September 2011). "Exploring the link between glucocerebrosidase mutations and parkinsonism". Trends in Molecular Medicine. 17 (9): 485–93. doi:10.1016/j.molmed.2011.05.003. PMC 3351003. PMID 21723784.
Batta G, Soltész L, Kovács T, Bozó T, Mészár Z, Kellermayer M, Szöllősi J, Nagy P (January 2018). "Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease". Scientific Reports. 8 (1): 157. Bibcode:2018NatSR...8..157B. doi:10.1038/s41598-017-18405-8. PMC 5760709. PMID 29317695.
Barth BM, Shanmugavelandy SS, Tacelosky DM, Kester M, Morad SA, Cabot MC (2013). "Gaucher's disease and cancer: a sphingolipid perspective". Critical Reviews in Oncogenesis. 18 (3): 221–34. doi:10.1615/critrevoncog.2013005814. PMC 3604879. PMID 23510065.
Nagral A (March 2014). "Gaucher disease". Journal of Clinical and Experimental Hepatology. 4 (1): 37–50. doi:10.1016/j.jceh.2014.02.005. PMC 4017182. PMID 25755533.
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM (March 2015). "Enzyme replacement and substrate reduction therapy for Gaucher disease". The Cochrane Database of Systematic Reviews. 2015 (3): CD010324. doi:10.1002/14651858.CD010324.pub2. PMC 8923052. PMID 25812601.
Deegan PB, Cox TM (2012). "Imiglucerase in the treatment of Gaucher disease: a history and perspective". Drug Design, Development and Therapy. 6: 81–106. doi:10.2147/DDDT.S14395. PMC 3340106. PMID 22563238.

nordphysicianguides.org

"Gaucher disease - Affected population". NORD - National Organization for Rare Disorders. Archived from the original on 25 September 2013. Retrieved 21 September 2013.

omim.org

Online Mendelian Inheritance in Man (OMIM): Gluosidase, beta, acid; GBA - 606463

rnz.co.nz

"Eating Fried Chicken - Cold is Gold". RNZ. 2019-08-01. Retrieved 2019-08-08.

semanticscholar.org

api.semanticscholar.org

Grabowski GA (October 2008). "Phenotype, diagnosis, and treatment of Gaucher's disease". Lancet. 372 (9645): 1263–71. doi:10.1016/S0140-6736(08)61522-6. PMID 19094956. S2CID 25221799.
Bennett LL, Mohan D (September 2013). "Gaucher disease and its treatment options". The Annals of Pharmacotherapy. 47 (9): 1182–93. doi:10.1177/1060028013500469. PMID 24259734. S2CID 10092272.
Dreborg S, Erikson A, Hagberg B (March 1980). "Gaucher disease--Norrbottnian type. I. General clinical description". European Journal of Pediatrics. 133 (2): 107–18. doi:10.1007/BF00441578. PMID 7363908. S2CID 12375149.

symptoma.com

"Gaucher Disease". symptoma. Retrieved 2015-12-07.

web.archive.org

[1] Archived September 24, 2006, at the Wayback Machine
World Health Organization. Regulatory Matters WHO Drug Information 5:3 1991. p 123
FDA Prescription and Over-the-Counter Drug Product List. 32ND Edition Cumulative Supplement Number 3: March 2012. Additions/Deletions for Prescription Drug Product List
"Shire Announces FDA Approval Of VPRIV(TM) (velaglucerase Alfa For Injection) For The Treatment Of Type I Gaucher Disease". Medicalnewstoday.com. Archived from the original on June 13, 2011. Retrieved 2012-08-13.
European Medicines Agency. Human Medicines Database. Zavesca (miglustat) Archived 2016-01-07 at the Wayback Machine Page Accessed 1 September 2014.
European Medicines Agency 1 April 2003 Scientific discussion related to approval of Zavesca Archived 2015-09-24 at the Wayback Machine.
"Gaucher disease - Affected population". NORD - National Organization for Rare Disorders. Archived from the original on 25 September 2013. Retrieved 21 September 2013.

worldcat.org

James WD, Elston DM, Berger TG, Andrews GC (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 536. ISBN 978-0-7216-2921-6. OCLC 663444979.