Tay–Sachs disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Tay–Sachs disease" in English language version.

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58nih.gov

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41doi.org

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albc-usa.org

Kolodny E, Horak F, Horak J (2011). "Jacob sheep breeders find more Tay–Sachs carriers". ALBC Newsletter. Archived from the original on 20 March 2012. Retrieved 5 May 2011.

archive.org

Walker, Julie (2007). Tay–Sachs Disease. The Rosen Publishing Group. p. 53. ISBN 9781404206977.

books.google.com

Kurreck, Jens; Stein, Cy Aaron (2016). Molecular Medicine: An Introduction. John Wiley & Sons. p. 71. ISBN 978-3-527-33189-5.
Marinetti, G. V. (2012). Disorders of Lipid Metabolism. Springer Science & Business Media. p. 205. ISBN 9781461595649. Archived from the original on 2017-11-05.
Vogel, Friedrich; Motulsky, Arno G. (2013). Vogel and Motulsky's Human Genetics: Problems and Approaches (3 ed.). Springer Science & Business Media. p. 578. ISBN 9783662033562. Archived from the original on 2017-11-05.
Jarvis, Sarah; Henderson, Roger; Stone, Joanne; Eddleman, Keith; Duenwald, Mary (2011-09-23). Pregnancy For Dummies. John Wiley & Sons. ISBN 978-1-119-97731-5.
Tay-Sachs Disease. Elsevier. 2001-10-10. ISBN 978-0-08-049030-4.

cdc.gov

"Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling". United States, Center for Disease Control. Archived from the original on 14 July 2009. Retrieved 18 June 2009.

clinicaltrials.gov

"Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses". 5 May 2008. Archived from the original on 13 February 2012. Retrieved 10 April 2012.

courant.com

articles.courant.com

William Hathaway (May 16, 2006). "Umbilical Cord Blood Is Child's Last Hope, Stem Cells Could Halt Tay–Sachs Damage". Hartford Courant. Archived from the original on 2018-07-05. Retrieved 2018-05-20.

doi.org

Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J (1 January 1990). "The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity". Neurology. 40 (1): 145–150. doi:10.1212/wnl.40.1.145. PMID 2136940. S2CID 19301606.
Lyn, Nicole; Pulikottil-Jacob, Ruth; Rochmann, Camille; Krupnick, Robert; Gwaltney, Chad; Stephens, Nick; Kissell, Julie; Cox, Gerald F.; Fischer, Tanya; Hamed, Alaa (2020-04-15). "Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases". Orphanet Journal of Rare Diseases. 15 (1): 92. doi:10.1186/s13023-020-01354-3. ISSN 1750-1172. PMC 7160997. PMID 32295606.
Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ (July 1981). "Chronic GM2 gangliosidosis masquerading as atypical Friedreich's ataxia: Clinical, morphologic, and biochemical studies of nine cases". Neurology. 31 (7): 787–98. doi:10.1212/wnl.31.7.787. PMID 6454083. S2CID 27305940.
Kaback MM (December 2000). "Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model". European Journal of Pediatrics. 159 (Suppl 3): S192 – S195. doi:10.1007/PL00014401. ISSN 1432-1076. PMID 11216898. S2CID 5808156.
Myerowitz R (1997). "Tay–Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene". Human Mutation. 9 (3): 195–208. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID 9090523. S2CID 22587938.
Chong, Jessica X.; Ouwenga, Rebecca; Anderson, Rebecca L.; Waggoner, Darrel J.; Ober, Carole (2012-10-05). "A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population". American Journal of Human Genetics. 91 (4): 608–620. doi:10.1016/j.ajhg.2012.08.007. ISSN 0002-9297. PMC 3484657. PMID 22981120.
Myerowitz R, Costigan FC (15 December 1988). "The major defect in Ashkenazi Jews with Tay–Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". Journal of Biological Chemistry. 263 (35): 18587–18589. doi:10.1016/S0021-9258(18)37323-X. PMID 2848800. Archived from the original on 17 April 2014.
Keats BJ, Elston RC, Andermann E (1987). "Pedigree discriminant analysis of two French Canadian Tay–Sachs families". Genetic Epidemiology. 4 (2): 77–85. doi:10.1002/gepi.1370040203. PMID 2953646. S2CID 23770703.
De Braekeleer M, Hechtman P, Andermann E, Kaplan F (April 1992). "The French Canadian Tay–Sachs disease deletion mutation: Identification of probable founders". Human Genetics. 89 (1): 83–87. doi:10.1007/BF00207048. PMID 1577470. S2CID 19278804.
Fraikor, Arlene L. (1977). "Tay-Sachs disease: genetic drift among the Ashkenazim Jews". Social Biology. 24 (2): 117–34. doi:10.1080/19485565.1977.9988272. PMID 897699.
Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous Ashkenazi Jewish Patient with Tay–Sachs Disease" (PDF). Journal of Biological Chemistry. 263 (34): 18563–7. doi:10.1016/S0021-9258(19)81396-0. PMID 2973464. Archived (PDF) from the original on 26 September 2007. Retrieved 11 May 2007.
Mahuran DJ (1999). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455 (2–3): 105–138. doi:10.1016/S0925-4439(99)00074-5. PMID 10571007.
Hechtman P, Kaplan F (1993). "Tay–Sachs disease screening and diagnosis: Evolving technologies". DNA and Cell Biology. 12 (8): 651–665. doi:10.1089/dna.1993.12.651. PMID 8397824.
Tittarelli R, Giagheddu M, Spadetta V (July 1966). "Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome". The British Journal of Ophthalmology. 50 (7): 414–420. doi:10.1136/bjo.50.7.414. PMC 506244. PMID 5947589.
Aragão RE, Ramos RM, Pereira FB, Bezerra AF, Fernandes DN (Jul–Aug 2009). "'Cherry red spot' in a patient with Tay–Sachs disease: case report". Arq Bras Oftalmol. 72 (4): 537–9. doi:10.1590/S0004-27492009000400019. PMID 19820796.
Seshadri R, Christopher R, Arvinda HR (2011). "Teaching NeuroImages: MRI in infantile Sandhoff disease". Neurology. 77 (5): e34. doi:10.1212/WNL.0b013e318227b215. PMID 21810694.
Bodurtha J, Strauss JF (2012). "Genomics and perinatal care". N. Engl. J. Med. 366 (1): 64–73. doi:10.1056/NEJMra1105043. PMC 4877696. PMID 22216843.
Ekstein, J; Katzenstein, H (2001). "The Dor Yeshorim story: Community-based carrier screening for Tay–Sachs disease". Tay–Sachs Disease. Advances in Genetics. Vol. 44. pp. 297–310. doi:10.1016/S0065-2660(01)44087-9. ISBN 978-0-12-017644-1. PMID 11596991.
Colaianni A, Chandrasekharan S, Cook-Deegan R (2010). "Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease". Genetics in Medicine. 12 (4 Suppl): S5 – S14. doi:10.1097/GIM.0b013e3181d5a669. PMC 3042321. PMID 20393311.
Eeg-Olofsson L, Kristensson K, Sourander P, Svennerholm L (1966). "Tay–Sachs disease. A generalized metabolic disorder". Acta Paediatrica Scandinavica. 55 (6): 546–62. doi:10.1111/j.1651-2227.1966.tb15254.x. PMID 5972561. S2CID 86246245.
Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR (12 September 2006). "Late-onset Tay–Sachs disease: Adverse effects of medications and implications for treatment". Neurology. 67 (5): 875–877. doi:10.1212/01.wnl.0000233847.72349.b6. PMID 16966555. S2CID 37096876.
Rozenberg R, Pereira Lda V (2001). "The frequency of Tay–Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program". Sao Paulo Medical Journal. 119 (4): 146–149. doi:10.1590/s1516-31802001000400007. PMID 11500789.
Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L (March 2004). "Origin and spread of the 1278insTATC mutation causing Tay–Sachs disease in Ashkenazi Jews: Genetic drift as a robust and parsimonious hypothesis". Human Genetics. 114 (4): 366–376. doi:10.1007/s00439-003-1072-8. PMID 14727180. S2CID 10768286.
Koeslag JH, Schach SR (1984). "Tay–Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease". Annals of Human Genetics. 48 (3): 275–281. doi:10.1111/j.1469-1809.1984.tb01025.x. PMID 6465844. S2CID 23470984.
Risch N, Tang H, Katzenstein H, Ekstein J (2003). "Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection". American Journal of Human Genetics. 72 (4): 812–822. doi:10.1086/373882. PMC 1180346. PMID 12612865.
Slatkin M (2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". American Journal of Human Genetics. 75 (2): 282–293. doi:10.1086/423146. PMC 1216062. PMID 15208782.
Sachs, Bernard (1887). "On arrested cerebral development with special reference to cortical pathology". Journal of Nervous and Mental Disease. 14 (9): 541–554. doi:10.1097/00005053-188714090-00001. hdl:10192/32703.
Reuter, Shelley Z (Summer 2006). "The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay–Sachs Disease". The Canadian Journal of Sociology. 31 (3): 291–323. doi:10.1353/cjs.2006.0061. S2CID 143784985.
Okada S, O'Brien JS (1969). "Tay–Sachs disease: Generalized absence of a beta-D-N-acetylhexosaminidase component". Science. 165 (3894): 698–700. Bibcode:1969Sci...165..698O. doi:10.1126/science.165.3894.698. PMID 5793973. S2CID 8473726.
O'Brien JS, Okada S, Chen A, Fillerup DL (1970). "Tay–Sachs disease: Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15–20. doi:10.1056/NEJM197007022830104. PMID 4986776.
Sagi M (1998). "Ethical aspects of genetic screening in Israel". Science in Context. 11 (3–4): 419–429. doi:10.1017/s0269889700003112. PMID 15168671. S2CID 31003675.
Matsuoka K, Tamura T, Tsuji D, Dohzono Y, Kitakaze K, Ohno K, Saito S, Sakuraba H, Itoh K (14 October 2011). "Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis". Molecular Therapy. 19 (6): 1017–1024. doi:10.1038/mt.2011.27. PMC 3129794. PMID 21487393.
Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH (2010). "Tay–Sachs disease in Jacob sheep". Molecular Genetics and Metabolism. 101 (4): 357–363. doi:10.1016/j.ymgme.2010.08.006. ISSN 1096-7192. PMID 20817517.
Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH (2011). "Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807–813. CiteSeerX 10.1.1.819.2731. doi:10.1177/0300985810388522. ISSN 0300-9858. PMID 21123862. S2CID 6106101.
Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, Proia RL, Winchester B, Dwek RA, Butters TD (1997). "Prevention of lysosomal storage in Tay–Sachs mice treated with N-butyldeoxynojirimycin". Science. 276 (5311): 428–431. doi:10.1126/science.276.5311.428. PMID 9103204.
Lachmann RH, Platt FM (2001). "Substrate reduction therapy for glycosphingolipid storage disorders". Expert Opinion on Investigational Drugs. 10 (3): 455–466. doi:10.1517/13543784.10.3.455. PMID 11227045. S2CID 5625586.
Igdoura SA, Mertineit C, Trasler JM, Gravel RA (1999). "Sialidase-mediated depletion of GM2 ganglioside in Tay–Sachs neuroglia cells". Human Molecular Genetics. 8 (6): 1111–1116. doi:10.1093/hmg/8.6.1111. PMID 10332044.
Kolodny EH, Neudorfer O, Gianutsos J, Zaroff C, Barnett N, Zeng BJ, Raghavan S, Torres P, Pastores GM (2004). "Late-onset Tay–Sachs disease: Natural history and treatment with OGT 918 (Zavesca™)". Journal of Neurochemistry. 90 (S1): 54–55. doi:10.1111/j.1471-4159.2004.02650_.x. ISSN 0022-3042. S2CID 221872176.
Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Amir-Levi Y, Katzburg S, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Stern N, Valevski A (March 2011). "Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs". Mol. Genet. Metab. 102 (3): 356–63. doi:10.1016/j.ymgme.2010.11.163. PMID 21185210.
Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan (2008-10-01). "Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes". Blood. 112 (7): 2979–2989. doi:10.1182/blood-2008-03-140830. ISSN 0006-4971. PMC 2556628. PMID 18587012.
Flotte, Terence R.; Cataltepe, Oguz; Puri, Ajit; Batista, Ana Rita; Moser, Richard; McKenna-Yasek, Diane; Douthwright, Catherine; Gernoux, Gwladys; Blackwood, Meghan; Mueller, Christian; Tai, Phillip W. L. (10 February 2022). "AAV gene therapy for Tay-Sachs disease". Nature Medicine. 28 (2): 251–259. doi:10.1038/s41591-021-01664-4. ISSN 1078-8956. PMC 10786171. PMID 35145305. S2CID 246748772.

handle.net

hdl.handle.net

Sachs, Bernard (1887). "On arrested cerebral development with special reference to cortical pathology". Journal of Nervous and Mental Disease. 14 (9): 541–554. doi:10.1097/00005053-188714090-00001. hdl:10192/32703.

harvard.edu

ui.adsabs.harvard.edu

Okada S, O'Brien JS (1969). "Tay–Sachs disease: Generalized absence of a beta-D-N-acetylhexosaminidase component". Science. 165 (3894): 698–700. Bibcode:1969Sci...165..698O. doi:10.1126/science.165.3894.698. PMID 5793973. S2CID 8473726.

independent.co.uk

"Parents spark breakthrough gene therapy for children with Tay-Sachs disease". The Independent. 2022-02-18. Archived from the original on 2022-03-07. Retrieved 2022-03-07.

irishcentral.com

"1,000 New York Irish to get tested for Tay Sachs disease gene". Irish Central. 13 August 2014. Archived from the original on 13 February 2020. Retrieved 13 February 2020.

jbc.org

Myerowitz R, Costigan FC (15 December 1988). "The major defect in Ashkenazi Jews with Tay–Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". Journal of Biological Chemistry. 263 (35): 18587–18589. doi:10.1016/S0021-9258(18)37323-X. PMID 2848800. Archived from the original on 17 April 2014.
Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous Ashkenazi Jewish Patient with Tay–Sachs Disease" (PDF). Journal of Biological Chemistry. 263 (34): 18563–7. doi:10.1016/S0021-9258(19)81396-0. PMID 2973464. Archived (PDF) from the original on 26 September 2007. Retrieved 11 May 2007.

jewishencyclopedia.com

"Amaurotic Idiocy". The Jewish Encyclopedia. New York: Funk and Wagnalls. 1901–1906. Archived from the original on 3 March 2012. Retrieved 7 March 2009.

mayoclinic.org

"Tay-Sachs disease - Symptoms and causes". Mayo Clinic. Archived from the original on 2020-10-25. Retrieved 2021-04-05.

medscape.com

emedicine.medscape.com

Marik, J J (13 April 2005). "Preimplantation Genetic Diagnosis". eMedicine.com. Archived from the original on 31 January 2009. Retrieved 10 May 2007.
GM2 Gangliosidoses – Introduction And Epidemiology Archived 2012-04-20 at the Wayback Machine at Medscape. Author: David H Tegay. Updated: Mar 9, 2012

nih.gov

pubmed.ncbi.nlm.nih.gov

Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J (1 January 1990). "The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity". Neurology. 40 (1): 145–150. doi:10.1212/wnl.40.1.145. PMID 2136940. S2CID 19301606.
Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF (1995). "Late-onset Tay–Sachs disease presenting as catatonic schizophrenia: Diagnostic and treatment issues". Journal of Clinical Psychiatry. 56 (8): 347–53. PMID 7635850.
Lyn, Nicole; Pulikottil-Jacob, Ruth; Rochmann, Camille; Krupnick, Robert; Gwaltney, Chad; Stephens, Nick; Kissell, Julie; Cox, Gerald F.; Fischer, Tanya; Hamed, Alaa (2020-04-15). "Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases". Orphanet Journal of Rare Diseases. 15 (1): 92. doi:10.1186/s13023-020-01354-3. ISSN 1750-1172. PMC 7160997. PMID 32295606.
Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ (July 1981). "Chronic GM2 gangliosidosis masquerading as atypical Friedreich's ataxia: Clinical, morphologic, and biochemical studies of nine cases". Neurology. 31 (7): 787–98. doi:10.1212/wnl.31.7.787. PMID 6454083. S2CID 27305940.
Kaback MM (December 2000). "Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model". European Journal of Pediatrics. 159 (Suppl 3): S192 – S195. doi:10.1007/PL00014401. ISSN 1432-1076. PMID 11216898. S2CID 5808156.
Myerowitz R (1997). "Tay–Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene". Human Mutation. 9 (3): 195–208. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID 9090523. S2CID 22587938.
Chong, Jessica X.; Ouwenga, Rebecca; Anderson, Rebecca L.; Waggoner, Darrel J.; Ober, Carole (2012-10-05). "A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population". American Journal of Human Genetics. 91 (4): 608–620. doi:10.1016/j.ajhg.2012.08.007. ISSN 0002-9297. PMC 3484657. PMID 22981120.
Myerowitz R, Costigan FC (15 December 1988). "The major defect in Ashkenazi Jews with Tay–Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". Journal of Biological Chemistry. 263 (35): 18587–18589. doi:10.1016/S0021-9258(18)37323-X. PMID 2848800. Archived from the original on 17 April 2014.
McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG (1992). "The presence of two different infantile Tay–Sachs disease mutations in a Cajun population". American Journal of Human Genetics. 51 (5): 1071–1077. PMC 1682822. PMID 1307230.
Keats BJ, Elston RC, Andermann E (1987). "Pedigree discriminant analysis of two French Canadian Tay–Sachs families". Genetic Epidemiology. 4 (2): 77–85. doi:10.1002/gepi.1370040203. PMID 2953646. S2CID 23770703.
De Braekeleer M, Hechtman P, Andermann E, Kaplan F (April 1992). "The French Canadian Tay–Sachs disease deletion mutation: Identification of probable founders". Human Genetics. 89 (1): 83–87. doi:10.1007/BF00207048. PMID 1577470. S2CID 19278804.
Fraikor, Arlene L. (1977). "Tay-Sachs disease: genetic drift among the Ashkenazim Jews". Social Biology. 24 (2): 117–34. doi:10.1080/19485565.1977.9988272. PMID 897699.
Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous Ashkenazi Jewish Patient with Tay–Sachs Disease" (PDF). Journal of Biological Chemistry. 263 (34): 18563–7. doi:10.1016/S0021-9258(19)81396-0. PMID 2973464. Archived (PDF) from the original on 26 September 2007. Retrieved 11 May 2007.
Kaback MM, Desnick RJ (2011). "Hexosaminidase A Deficiency". In Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJ, Stephens K (eds.). GeneReviews [Internet]. Seattle, Washington, USA: University of Washington, Seattle. PMID 20301397. Archived from the original on 2014-01-16.
Mahuran DJ (1999). "Biochemical consequences of mutations causing the GM2 gangliosidoses". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455 (2–3): 105–138. doi:10.1016/S0925-4439(99)00074-5. PMID 10571007.
Hechtman P, Kaplan F (1993). "Tay–Sachs disease screening and diagnosis: Evolving technologies". DNA and Cell Biology. 12 (8): 651–665. doi:10.1089/dna.1993.12.651. PMID 8397824.
Tittarelli R, Giagheddu M, Spadetta V (July 1966). "Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome". The British Journal of Ophthalmology. 50 (7): 414–420. doi:10.1136/bjo.50.7.414. PMC 506244. PMID 5947589.
Aragão RE, Ramos RM, Pereira FB, Bezerra AF, Fernandes DN (Jul–Aug 2009). "'Cherry red spot' in a patient with Tay–Sachs disease: case report". Arq Bras Oftalmol. 72 (4): 537–9. doi:10.1590/S0004-27492009000400019. PMID 19820796.
Seshadri R, Christopher R, Arvinda HR (2011). "Teaching NeuroImages: MRI in infantile Sandhoff disease". Neurology. 77 (5): e34. doi:10.1212/WNL.0b013e318227b215. PMID 21810694.
Stoller D (1997). "Prenatal Genetic Screening: The Enigma of Selective Abortion". Journal of Law and Health. 12 (1): 121–140. PMID 10182027.
Bodurtha J, Strauss JF (2012). "Genomics and perinatal care". N. Engl. J. Med. 366 (1): 64–73. doi:10.1056/NEJMra1105043. PMC 4877696. PMID 22216843.
Ekstein, J; Katzenstein, H (2001). "The Dor Yeshorim story: Community-based carrier screening for Tay–Sachs disease". Tay–Sachs Disease. Advances in Genetics. Vol. 44. pp. 297–310. doi:10.1016/S0065-2660(01)44087-9. ISBN 978-0-12-017644-1. PMID 11596991.
Colaianni A, Chandrasekharan S, Cook-Deegan R (2010). "Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease". Genetics in Medicine. 12 (4 Suppl): S5 – S14. doi:10.1097/GIM.0b013e3181d5a669. PMC 3042321. PMID 20393311.
Eeg-Olofsson L, Kristensson K, Sourander P, Svennerholm L (1966). "Tay–Sachs disease. A generalized metabolic disorder". Acta Paediatrica Scandinavica. 55 (6): 546–62. doi:10.1111/j.1651-2227.1966.tb15254.x. PMID 5972561. S2CID 86246245.
Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR (12 September 2006). "Late-onset Tay–Sachs disease: Adverse effects of medications and implications for treatment". Neurology. 67 (5): 875–877. doi:10.1212/01.wnl.0000233847.72349.b6. PMID 16966555. S2CID 37096876.
Rozenberg R, Pereira Lda V (2001). "The frequency of Tay–Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program". Sao Paulo Medical Journal. 119 (4): 146–149. doi:10.1590/s1516-31802001000400007. PMID 11500789.
Chakravarti A, Chakraborty R (1978). "Elevated frequency of Tay–Sachs disease among Ashkenazic Jews unlikely by genetic drift alone". American Journal of Human Genetics. 30 (3): 256–261. PMC 1685578. PMID 677122.
Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L (March 2004). "Origin and spread of the 1278insTATC mutation causing Tay–Sachs disease in Ashkenazi Jews: Genetic drift as a robust and parsimonious hypothesis". Human Genetics. 114 (4): 366–376. doi:10.1007/s00439-003-1072-8. PMID 14727180. S2CID 10768286.
Koeslag JH, Schach SR (1984). "Tay–Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease". Annals of Human Genetics. 48 (3): 275–281. doi:10.1111/j.1469-1809.1984.tb01025.x. PMID 6465844. S2CID 23470984.
Risch N, Tang H, Katzenstein H, Ekstein J (2003). "Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection". American Journal of Human Genetics. 72 (4): 812–822. doi:10.1086/373882. PMC 1180346. PMID 12612865.
Slatkin M (2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". American Journal of Human Genetics. 75 (2): 282–293. doi:10.1086/423146. PMC 1216062. PMID 15208782.
Okada S, O'Brien JS (1969). "Tay–Sachs disease: Generalized absence of a beta-D-N-acetylhexosaminidase component". Science. 165 (3894): 698–700. Bibcode:1969Sci...165..698O. doi:10.1126/science.165.3894.698. PMID 5793973. S2CID 8473726.
O'Brien JS, Okada S, Chen A, Fillerup DL (1970). "Tay–Sachs disease: Detection of heterozygotes and homozygotes by serum hexaminidase assay". New England Journal of Medicine. 283 (1): 15–20. doi:10.1056/NEJM197007022830104. PMID 4986776.
Sagi M (1998). "Ethical aspects of genetic screening in Israel". Science in Context. 11 (3–4): 419–429. doi:10.1017/s0269889700003112. PMID 15168671. S2CID 31003675.
Matsuoka K, Tamura T, Tsuji D, Dohzono Y, Kitakaze K, Ohno K, Saito S, Sakuraba H, Itoh K (14 October 2011). "Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis". Molecular Therapy. 19 (6): 1017–1024. doi:10.1038/mt.2011.27. PMC 3129794. PMID 21487393.
Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH (2010). "Tay–Sachs disease in Jacob sheep". Molecular Genetics and Metabolism. 101 (4): 357–363. doi:10.1016/j.ymgme.2010.08.006. ISSN 1096-7192. PMID 20817517.
Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH (2011). "Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807–813. CiteSeerX 10.1.1.819.2731. doi:10.1177/0300985810388522. ISSN 0300-9858. PMID 21123862. S2CID 6106101.
Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, Proia RL, Winchester B, Dwek RA, Butters TD (1997). "Prevention of lysosomal storage in Tay–Sachs mice treated with N-butyldeoxynojirimycin". Science. 276 (5311): 428–431. doi:10.1126/science.276.5311.428. PMID 9103204.
Lachmann RH, Platt FM (2001). "Substrate reduction therapy for glycosphingolipid storage disorders". Expert Opinion on Investigational Drugs. 10 (3): 455–466. doi:10.1517/13543784.10.3.455. PMID 11227045. S2CID 5625586.
Igdoura SA, Mertineit C, Trasler JM, Gravel RA (1999). "Sialidase-mediated depletion of GM2 ganglioside in Tay–Sachs neuroglia cells". Human Molecular Genetics. 8 (6): 1111–1116. doi:10.1093/hmg/8.6.1111. PMID 10332044.
Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Amir-Levi Y, Katzburg S, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Stern N, Valevski A (March 2011). "Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs". Mol. Genet. Metab. 102 (3): 356–63. doi:10.1016/j.ymgme.2010.11.163. PMID 21185210.
Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan (2008-10-01). "Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes". Blood. 112 (7): 2979–2989. doi:10.1182/blood-2008-03-140830. ISSN 0006-4971. PMC 2556628. PMID 18587012.
Flotte, Terence R.; Cataltepe, Oguz; Puri, Ajit; Batista, Ana Rita; Moser, Richard; McKenna-Yasek, Diane; Douthwright, Catherine; Gernoux, Gwladys; Blackwood, Meghan; Mueller, Christian; Tai, Phillip W. L. (10 February 2022). "AAV gene therapy for Tay-Sachs disease". Nature Medicine. 28 (2): 251–259. doi:10.1038/s41591-021-01664-4. ISSN 1078-8956. PMC 10786171. PMID 35145305. S2CID 246748772.

ncbi.nlm.nih.gov

Lyn, Nicole; Pulikottil-Jacob, Ruth; Rochmann, Camille; Krupnick, Robert; Gwaltney, Chad; Stephens, Nick; Kissell, Julie; Cox, Gerald F.; Fischer, Tanya; Hamed, Alaa (2020-04-15). "Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases". Orphanet Journal of Rare Diseases. 15 (1): 92. doi:10.1186/s13023-020-01354-3. ISSN 1750-1172. PMC 7160997. PMID 32295606.
Chong, Jessica X.; Ouwenga, Rebecca; Anderson, Rebecca L.; Waggoner, Darrel J.; Ober, Carole (2012-10-05). "A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population". American Journal of Human Genetics. 91 (4): 608–620. doi:10.1016/j.ajhg.2012.08.007. ISSN 0002-9297. PMC 3484657. PMID 22981120.
McDowell GA, Mules EH, Fabacher P, Shapira E, Blitzer MG (1992). "The presence of two different infantile Tay–Sachs disease mutations in a Cajun population". American Journal of Human Genetics. 51 (5): 1071–1077. PMC 1682822. PMID 1307230.
Kaback MM, Desnick RJ (2011). "Hexosaminidase A Deficiency". In Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJ, Stephens K (eds.). GeneReviews [Internet]. Seattle, Washington, USA: University of Washington, Seattle. PMID 20301397. Archived from the original on 2014-01-16.
Tittarelli R, Giagheddu M, Spadetta V (July 1966). "Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome". The British Journal of Ophthalmology. 50 (7): 414–420. doi:10.1136/bjo.50.7.414. PMC 506244. PMID 5947589.
Bodurtha J, Strauss JF (2012). "Genomics and perinatal care". N. Engl. J. Med. 366 (1): 64–73. doi:10.1056/NEJMra1105043. PMC 4877696. PMID 22216843.
Colaianni A, Chandrasekharan S, Cook-Deegan R (2010). "Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease". Genetics in Medicine. 12 (4 Suppl): S5 – S14. doi:10.1097/GIM.0b013e3181d5a669. PMC 3042321. PMID 20393311.
Chakravarti A, Chakraborty R (1978). "Elevated frequency of Tay–Sachs disease among Ashkenazic Jews unlikely by genetic drift alone". American Journal of Human Genetics. 30 (3): 256–261. PMC 1685578. PMID 677122.
Risch N, Tang H, Katzenstein H, Ekstein J (2003). "Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection". American Journal of Human Genetics. 72 (4): 812–822. doi:10.1086/373882. PMC 1180346. PMID 12612865.
Slatkin M (2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". American Journal of Human Genetics. 75 (2): 282–293. doi:10.1086/423146. PMC 1216062. PMID 15208782.
Matsuoka K, Tamura T, Tsuji D, Dohzono Y, Kitakaze K, Ohno K, Saito S, Sakuraba H, Itoh K (14 October 2011). "Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis". Molecular Therapy. 19 (6): 1017–1024. doi:10.1038/mt.2011.27. PMC 3129794. PMID 21487393.
Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan (2008-10-01). "Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes". Blood. 112 (7): 2979–2989. doi:10.1182/blood-2008-03-140830. ISSN 0006-4971. PMC 2556628. PMID 18587012.
Flotte, Terence R.; Cataltepe, Oguz; Puri, Ajit; Batista, Ana Rita; Moser, Richard; McKenna-Yasek, Diane; Douthwright, Catherine; Gernoux, Gwladys; Blackwood, Meghan; Mueller, Christian; Tai, Phillip W. L. (10 February 2022). "AAV gene therapy for Tay-Sachs disease". Nature Medicine. 28 (2): 251–259. doi:10.1038/s41591-021-01664-4. ISSN 1078-8956. PMC 10786171. PMID 35145305. S2CID 246748772.

ghr.nlm.nih.gov

"Tay–Sachs disease". Genetics Home Reference. October 2012. Archived from the original on 13 May 2017. Retrieved 29 May 2017.

ninds.nih.gov

"Tay–Sachs disease Information Page". National Institute of Neurological Disorders and Stroke. 14 February 2007. Archived from the original on 27 November 2011. Retrieved 10 May 2007.

omim.org

McKusick, Victor A; Hamosh, Ada. "Online Mendelian Inheritance in Man". United States National Institutes of Health. Archived from the original on 4 January 2016. Retrieved 24 April 2009.

psu.edu

citeseerx.ist.psu.edu

Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH (2011). "Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807–813. CiteSeerX 10.1.1.819.2731. doi:10.1177/0300985810388522. ISSN 0300-9858. PMID 21123862. S2CID 6106101.

rarediseases.org

"Tay Sachs Disease". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 20 February 2017. Retrieved 29 May 2017.

semanticscholar.org

api.semanticscholar.org

Specola N, Vanier MT, Goutières F, Mikol J, Aicardi J (1 January 1990). "The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity". Neurology. 40 (1): 145–150. doi:10.1212/wnl.40.1.145. PMID 2136940. S2CID 19301606.
Willner JP, Grabowski GA, Gordon RE, Bender AN, Desnick RJ (July 1981). "Chronic GM2 gangliosidosis masquerading as atypical Friedreich's ataxia: Clinical, morphologic, and biochemical studies of nine cases". Neurology. 31 (7): 787–98. doi:10.1212/wnl.31.7.787. PMID 6454083. S2CID 27305940.
Kaback MM (December 2000). "Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model". European Journal of Pediatrics. 159 (Suppl 3): S192 – S195. doi:10.1007/PL00014401. ISSN 1432-1076. PMID 11216898. S2CID 5808156.
Myerowitz R (1997). "Tay–Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene". Human Mutation. 9 (3): 195–208. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID 9090523. S2CID 22587938.
Keats BJ, Elston RC, Andermann E (1987). "Pedigree discriminant analysis of two French Canadian Tay–Sachs families". Genetic Epidemiology. 4 (2): 77–85. doi:10.1002/gepi.1370040203. PMID 2953646. S2CID 23770703.
De Braekeleer M, Hechtman P, Andermann E, Kaplan F (April 1992). "The French Canadian Tay–Sachs disease deletion mutation: Identification of probable founders". Human Genetics. 89 (1): 83–87. doi:10.1007/BF00207048. PMID 1577470. S2CID 19278804.
Eeg-Olofsson L, Kristensson K, Sourander P, Svennerholm L (1966). "Tay–Sachs disease. A generalized metabolic disorder". Acta Paediatrica Scandinavica. 55 (6): 546–62. doi:10.1111/j.1651-2227.1966.tb15254.x. PMID 5972561. S2CID 86246245.
Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR (12 September 2006). "Late-onset Tay–Sachs disease: Adverse effects of medications and implications for treatment". Neurology. 67 (5): 875–877. doi:10.1212/01.wnl.0000233847.72349.b6. PMID 16966555. S2CID 37096876.
Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L (March 2004). "Origin and spread of the 1278insTATC mutation causing Tay–Sachs disease in Ashkenazi Jews: Genetic drift as a robust and parsimonious hypothesis". Human Genetics. 114 (4): 366–376. doi:10.1007/s00439-003-1072-8. PMID 14727180. S2CID 10768286.
Koeslag JH, Schach SR (1984). "Tay–Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease". Annals of Human Genetics. 48 (3): 275–281. doi:10.1111/j.1469-1809.1984.tb01025.x. PMID 6465844. S2CID 23470984.
Reuter, Shelley Z (Summer 2006). "The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay–Sachs Disease". The Canadian Journal of Sociology. 31 (3): 291–323. doi:10.1353/cjs.2006.0061. S2CID 143784985.
Okada S, O'Brien JS (1969). "Tay–Sachs disease: Generalized absence of a beta-D-N-acetylhexosaminidase component". Science. 165 (3894): 698–700. Bibcode:1969Sci...165..698O. doi:10.1126/science.165.3894.698. PMID 5793973. S2CID 8473726.
Sagi M (1998). "Ethical aspects of genetic screening in Israel". Science in Context. 11 (3–4): 419–429. doi:10.1017/s0269889700003112. PMID 15168671. S2CID 31003675.
Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH (2011). "Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807–813. CiteSeerX 10.1.1.819.2731. doi:10.1177/0300985810388522. ISSN 0300-9858. PMID 21123862. S2CID 6106101.
Lachmann RH, Platt FM (2001). "Substrate reduction therapy for glycosphingolipid storage disorders". Expert Opinion on Investigational Drugs. 10 (3): 455–466. doi:10.1517/13543784.10.3.455. PMID 11227045. S2CID 5625586.
Kolodny EH, Neudorfer O, Gianutsos J, Zaroff C, Barnett N, Zeng BJ, Raghavan S, Torres P, Pastores GM (2004). "Late-onset Tay–Sachs disease: Natural history and treatment with OGT 918 (Zavesca™)". Journal of Neurochemistry. 90 (S1): 54–55. doi:10.1111/j.1471-4159.2004.02650_.x. ISSN 0022-3042. S2CID 221872176.
Flotte, Terence R.; Cataltepe, Oguz; Puri, Ajit; Batista, Ana Rita; Moser, Richard; McKenna-Yasek, Diane; Douthwright, Catherine; Gernoux, Gwladys; Blackwood, Meghan; Mueller, Christian; Tai, Phillip W. L. (10 February 2022). "AAV gene therapy for Tay-Sachs disease". Nature Medicine. 28 (2): 251–259. doi:10.1038/s41591-021-01664-4. ISSN 1078-8956. PMC 10786171. PMID 35145305. S2CID 246748772.

theconversation.com

Sena-Esteves, Miguel (14 February 2022). "First gene therapy for Tay-Sachs disease successfully given to two children". The Conversation. Archived from the original on 2022-03-06. Retrieved 2022-03-07.

web.archive.org

"Tay–Sachs disease". Genetics Home Reference. October 2012. Archived from the original on 13 May 2017. Retrieved 29 May 2017.
"Tay Sachs Disease". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 20 February 2017. Retrieved 29 May 2017.
"Tay-Sachs disease - Symptoms and causes". Mayo Clinic. Archived from the original on 2020-10-25. Retrieved 2021-04-05.
Marinetti, G. V. (2012). Disorders of Lipid Metabolism. Springer Science & Business Media. p. 205. ISBN 9781461595649. Archived from the original on 2017-11-05.
Vogel, Friedrich; Motulsky, Arno G. (2013). Vogel and Motulsky's Human Genetics: Problems and Approaches (3 ed.). Springer Science & Business Media. p. 578. ISBN 9783662033562. Archived from the original on 2017-11-05.
"Tay–Sachs disease Information Page". National Institute of Neurological Disorders and Stroke. 14 February 2007. Archived from the original on 27 November 2011. Retrieved 10 May 2007.
McKusick, Victor A; Hamosh, Ada. "Online Mendelian Inheritance in Man". United States National Institutes of Health. Archived from the original on 4 January 2016. Retrieved 24 April 2009.
Myerowitz R, Costigan FC (15 December 1988). "The major defect in Ashkenazi Jews with Tay–Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase". Journal of Biological Chemistry. 263 (35): 18587–18589. doi:10.1016/S0021-9258(18)37323-X. PMID 2848800. Archived from the original on 17 April 2014.
Ohno K, Suzuki K (5 December 1988). "Multiple Abnormal beta-Hexosaminidase Alpha-Chain mRNAs in a Compound-Heterozygous Ashkenazi Jewish Patient with Tay–Sachs Disease" (PDF). Journal of Biological Chemistry. 263 (34): 18563–7. doi:10.1016/S0021-9258(19)81396-0. PMID 2973464. Archived (PDF) from the original on 26 September 2007. Retrieved 11 May 2007.
Kaback MM, Desnick RJ (2011). "Hexosaminidase A Deficiency". In Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJ, Stephens K (eds.). GeneReviews [Internet]. Seattle, Washington, USA: University of Washington, Seattle. PMID 20301397. Archived from the original on 2014-01-16.
"Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling". United States, Center for Disease Control. Archived from the original on 14 July 2009. Retrieved 18 June 2009.
Marik, J J (13 April 2005). "Preimplantation Genetic Diagnosis". eMedicine.com. Archived from the original on 31 January 2009. Retrieved 10 May 2007.
"1,000 New York Irish to get tested for Tay Sachs disease gene". Irish Central. 13 August 2014. Archived from the original on 13 February 2020. Retrieved 13 February 2020.
GM2 Gangliosidoses – Introduction And Epidemiology Archived 2012-04-20 at the Wayback Machine at Medscape. Author: David H Tegay. Updated: Mar 9, 2012
"Amaurotic Idiocy". The Jewish Encyclopedia. New York: Funk and Wagnalls. 1901–1906. Archived from the original on 3 March 2012. Retrieved 7 March 2009.
Kolodny E, Horak F, Horak J (2011). "Jacob sheep breeders find more Tay–Sachs carriers". ALBC Newsletter. Archived from the original on 20 March 2012. Retrieved 5 May 2011.
"Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses". 5 May 2008. Archived from the original on 13 February 2012. Retrieved 10 April 2012.
William Hathaway (May 16, 2006). "Umbilical Cord Blood Is Child's Last Hope, Stem Cells Could Halt Tay–Sachs Damage". Hartford Courant. Archived from the original on 2018-07-05. Retrieved 2018-05-20.
Sena-Esteves, Miguel (14 February 2022). "First gene therapy for Tay-Sachs disease successfully given to two children". The Conversation. Archived from the original on 2022-03-06. Retrieved 2022-03-07.
"Parents spark breakthrough gene therapy for children with Tay-Sachs disease". The Independent. 2022-02-18. Archived from the original on 2022-03-07. Retrieved 2022-03-07.

worldcat.org

search.worldcat.org

Lyn, Nicole; Pulikottil-Jacob, Ruth; Rochmann, Camille; Krupnick, Robert; Gwaltney, Chad; Stephens, Nick; Kissell, Julie; Cox, Gerald F.; Fischer, Tanya; Hamed, Alaa (2020-04-15). "Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases". Orphanet Journal of Rare Diseases. 15 (1): 92. doi:10.1186/s13023-020-01354-3. ISSN 1750-1172. PMC 7160997. PMID 32295606.
Kaback MM (December 2000). "Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model". European Journal of Pediatrics. 159 (Suppl 3): S192 – S195. doi:10.1007/PL00014401. ISSN 1432-1076. PMID 11216898. S2CID 5808156.
Chong, Jessica X.; Ouwenga, Rebecca; Anderson, Rebecca L.; Waggoner, Darrel J.; Ober, Carole (2012-10-05). "A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population". American Journal of Human Genetics. 91 (4): 608–620. doi:10.1016/j.ajhg.2012.08.007. ISSN 0002-9297. PMC 3484657. PMID 22981120.
Torres PA, Zeng BJ, Porter BF, Alroy J, Horak F, Horak J, Kolodny EH (2010). "Tay–Sachs disease in Jacob sheep". Molecular Genetics and Metabolism. 101 (4): 357–363. doi:10.1016/j.ymgme.2010.08.006. ISSN 1096-7192. PMID 20817517.
Porter BF, Lewis BC, Edwards JF, Alroy J, Zeng BJ, Torres PA, Bretzlaff KN, Kolodny EH (2011). "Pathology of GM2 Gangliosidosis in Jacob Sheep". Veterinary Pathology. 48 (3): 807–813. CiteSeerX 10.1.1.819.2731. doi:10.1177/0300985810388522. ISSN 0300-9858. PMID 21123862. S2CID 6106101.
Kolodny EH, Neudorfer O, Gianutsos J, Zaroff C, Barnett N, Zeng BJ, Raghavan S, Torres P, Pastores GM (2004). "Late-onset Tay–Sachs disease: Natural history and treatment with OGT 918 (Zavesca™)". Journal of Neurochemistry. 90 (S1): 54–55. doi:10.1111/j.1471-4159.2004.02650_.x. ISSN 0022-3042. S2CID 221872176.
Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan (2008-10-01). "Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes". Blood. 112 (7): 2979–2989. doi:10.1182/blood-2008-03-140830. ISSN 0006-4971. PMC 2556628. PMID 18587012.
Flotte, Terence R.; Cataltepe, Oguz; Puri, Ajit; Batista, Ana Rita; Moser, Richard; McKenna-Yasek, Diane; Douthwright, Catherine; Gernoux, Gwladys; Blackwood, Meghan; Mueller, Christian; Tai, Phillip W. L. (10 February 2022). "AAV gene therapy for Tay-Sachs disease". Nature Medicine. 28 (2): 251–259. doi:10.1038/s41591-021-01664-4. ISSN 1078-8956. PMC 10786171. PMID 35145305. S2CID 246748772.