Теј-Саксова болест (Serbian Wikipedia)
Analysis of information sources in references of the Wikipedia article "Теј-Саксова болест" in Serbian language version.
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archive.org
- Lane, A. B.; Young, E.; Jenkins, T. (1980). „Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family”. Am. J. Hum Genet. 32 (6): 920—926. PMC 1686159
. PMID 7446530. - De Braekeleer, M.; Hechtman, P.; Andermann, E.; Kaplan, F. (1992). „The French Canadian Tay-Sachs disease deletion mutation: Identification of probable founders”. Human Genetics. 89 (1): 83—87. PMID 1577470. S2CID 19278804. doi:10.1007/BF00207048.
- Fraikor, Arlene L. (1977). „Tay‐Sachs disease: Genetic drift among the Ashkenazim Jews”. Social Biology. 24 (2): 117—134. PMID 897699. doi:10.1080/19485565.1977.9988272..
- Korf, Bruce R. (2000). Human Genetics: A Problem-Based Approach (2nd изд.). Wiley-Blackwell. стр. 11–12. ISBN 978-0-632-04425-2.
- Willner, J. P.; Grabowski, G. A.; Gordon, R. E.; Bender, A. N.; Desnick, R. J. (1981). „Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases”. Neurology. 31 (7): 787—798. PMID 6454083. S2CID 27305940. doi:10.1212/wnl.31.7.787.
- Tittarelli, R.; Giagheddu, M.; Spadetta, V. (1966). „Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome”. British Journal of Ophthalmology. 50 (7): 414—420. PMC 506244 . PMID 5947589. doi:10.1136/bjo.50.7.414.
- ACOG Committee on Genetics (2005). „ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease”. Obstetrics and Gynecology. 106 (4): 893—894. PMID 16199656. doi:10.1097/00006250-200510000-00054.
books.google.com
- Marinetti, G. V. (2012-12-06). Disorders of Lipid Metabolism (на језику: енглески). Springer Science & Business Media. ISBN 978-1-4615-9564-9.
doi.org
- Myerowitz, Rachel (1997). „Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex a gene”. Human Mutation. 9 (3): 195—208. PMID 9090523. S2CID 22587938. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7..
- Lazarin, G. A.; Haque, I. S.; Nazareth, S.; Iori, K.; Patterson, A. S.; Jacobson, J. L.; Marshall, J. R.; Seltzer, W. K.; Patrizio, P.; Evans, E. A.; Srinivasan, B. S. (2013). „An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals”. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15 (3): 178—186. PMC 3908551 . PMID 22975760. doi:10.1038/gim.2012.114.
- Rozenberg, Roberto; Pereira, Lygia da Veiga (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. PMID 11500789. doi:10.1590/s1516-31802001000400007..
- Myerowitz, R.; Costigan, F. C. (1988). „The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase”. The Journal of Biological Chemistry. 263 (35): 18587—18589. PMID 2848800. doi:10.1016/S0021-9258(18)37323-X .
- Frisch, Amos; Colombo, Roberto; Michaelovsky, Elena; Karpati, Mazal; Goldman, Boleslaw; Peleg, Leah (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. PMID 14727180. S2CID 10768286. doi:10.1007/s00439-003-1072-8.
- Nolan, D.; Carlson, M. (јун 2016). „Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis”. Journal of Child Neurology. 31 (7): 887—94. PMID 26863999. S2CID 206552341. doi:10.1177/0883073815627880..
- Barritt, A. W.; Anderson, S. J.; Leigh, P. N.; Ridha, B. H. (октобар 2017). „Late-onset Tay-Sachs disease” (PDF). Pract Neurol. 17 (5): 396—399. PMID 28739864. S2CID 7351651. doi:10.1136/practneurol-2017-001665..
- Kaback, Michael M. (2000). „Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model”. European Journal of Pediatrics. 159: S192—S195. ISSN 1432-1076. PMID 11216898. S2CID 5808156. doi:10.1007/PL00014401.
- Myerowitz, R.; Costigan, F. C. (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. PMID 2848800. doi:10.1016/S0021-9258(18)37323-X .
- Keats, Bronya J. B.; Elston, Robert C.; Andermann, Eva; Rao, D. C. (1987). „Pedigree discriminant analysis of two French Canadian Tay-Sachs families”. Genetic Epidemiology. 4 (2): 77—85. PMID 2953646. S2CID 23770703. doi:10.1002/gepi.1370040203.
- De Braekeleer, M.; Hechtman, P.; Andermann, E.; Kaplan, F. (1992). „The French Canadian Tay-Sachs disease deletion mutation: Identification of probable founders”. Human Genetics. 89 (1): 83—87. PMID 1577470. S2CID 19278804. doi:10.1007/BF00207048.
- Fraikor, Arlene L. (1977). „Tay‐Sachs disease: Genetic drift among the Ashkenazim Jews”. Social Biology. 24 (2): 117—134. PMID 897699. doi:10.1080/19485565.1977.9988272..
- Ohno, K.; Suzuki, K. (1988). „Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease”. Journal of Biological Chemistry. 263 (34): 18563—18567. PMID 2973464. doi:10.1016/S0021-9258(19)81396-0 ..
- Chin, E.; Bean, L.; Coffee, B.; Hegde, M. R. (август 2009). „Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease”. Hum Genet. 126 (2): 329. PMID 19644708. S2CID 37396984. doi:10.1007/s00439-009-0717-7..
- Mahuran, Don J. (1999). „Biochemical consequences of mutations causing the GM2 gangliosidoses”. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455 (2–3): 105—138. PMID 10571007. doi:10.1016/S0925-4439(99)00074-5..
- Specola, N.; Vanier, M. T.; Goutieres, F.; Mikol, J.; Aicardi, J. (1990). „The juvenile and chronic forms of GM2 gangliosidosis: Clinical and enzymatic heterogeneity”. Neurology. 40 (1): 145—150. PMID 2136940. S2CID 19301606. doi:10.1212/wnl.40.1.145.
- Saleh, Osama; MacQueen, G. M.; Clarke, J. T.; Callahan, J. W.; Strasberg, P. M.; Mazurek, M. F. (2000). „Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature”. Jefferson Journal of Psychiatry. 15 (8): 347—353. PMID 7635850. doi:10.29046/JJP.015.1.006.
- Willner, J. P.; Grabowski, G. A.; Gordon, R. E.; Bender, A. N.; Desnick, R. J. (1981). „Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases”. Neurology. 31 (7): 787—798. PMID 6454083. S2CID 27305940. doi:10.1212/wnl.31.7.787.
- Hechtman, Peter; Kaplan, Feige (1993). „Tay–Sachs Disease Screening and Diagnosis: Evolving Technologies”. DNA and Cell Biology. 12 (8): 651—665. PMID 8397824. doi:10.1089/dna.1993.12.651..
- Tittarelli, R.; Giagheddu, M.; Spadetta, V. (1966). „Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome”. British Journal of Ophthalmology. 50 (7): 414—420. PMC 506244 . PMID 5947589. doi:10.1136/bjo.50.7.414.
- Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira (2009). „"Cherry red spot" in a patient with Tay-Sachs disease: Case report”. Arquivos Brasileiros de Oftalmologia. 72 (4): 537—539. PMID 19820796. doi:10.1590/S0004-27492009000400019..
- Seshadri, R.; Christopher, R.; Arvinda, H. R. (2011). „Teaching Neuro Images: MRI in infantile Sandhoff disease”. Neurology. 77 (5): e34. PMID 21810694. S2CID 40494692. doi:10.1212/WNL.0b013e318227b215..
- Sutton, V. Reid (2002). „Tay-Sachs disease screening and counseling families at risk for metabolic disease”. Obstetrics and Gynecology Clinics of North America. 29 (2): 287—296. ISSN 0889-8545. PMID 12108829. doi:10.1016/s0889-8545(01)00002-x.
- Kronn, D.; Jansen, V.; Ostrer, H. (1998). „Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: The first 1000 cases at New York University Medical Center, New York, NY”. Archives of Internal Medicine. 158 (7): 777—781. PMID 9554684. doi:10.1001/archinte.158.7.777.
- 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 = Revista Paulista de Medicina. 119 (4): 146—149. PMID 11500789. doi:10.1590/s1516-31802001000400007.
- ACOG Committee on Genetics (2005). „ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease”. Obstetrics and Gynecology. 106 (4): 893—894. PMID 16199656. doi:10.1097/00006250-200510000-00054.
- Lew, R. M.; Burnett, L.; Proos, A. L.; Barlow-Stewart, K.; Delatycki, M. B.; Bankier, A.; Aizenberg, H.; Field, M. J.; Berman, Y.; Fleischer, R.; Fietz, M. (2015). „Ashkenazi Jewish population screening for Tay-Sachs disease: The international and Australian experience”. Journal of Paediatrics and Child Health. 51 (3): 271—279. PMID 24923490. S2CID 206133450. doi:10.1111/jpc.12632.
- Natowicz, M. R.; Prence, E. M. (1996). „Heterozygote screening for Tay-Sachs disease: Past successes and future challenges”. Current Opinion in Pediatrics. 8 (6): 625—629. PMID 9018448. doi:10.1097/00008480-199612000-00014.
- Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan; Semmel, Deborah; Escolar, Maria L.; Martin, Paul L.; Carter, Shelly; Kurtzberg, Joanne (2008). „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. ISSN 0006-4971. PMC 2556628 . PMID 18587012. doi:10.1182/blood-2008-03-140830.
- 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.; Jiang, Xuntian; Bateman, Scot; Spanakis, Spiro G.; Parzych, Julia; Keeler, Allison M.; Abayazeed, Aly; Rohatgi, Saurabh; Gibson, Laura; Finberg, Robert; Barton, Bruce A.; Vardar, Zeynep; Shazeeb, Mohammed Salman; Gounis, Matthew; Tifft, Cynthia J.; Eichler, Florian S.; Brown, Robert H.; Martin, Douglas R.; Gray-Edwards, Heather L.; Sena-Esteves, Miguel (2022). „AAV gene therapy for Tay-Sachs disease”. Nature Medicine. 28 (2): 251—259. ISSN 1078-8956. PMID 35145305. S2CID 246748772. doi:10.1038/s41591-021-01664-4.
independent.co.uk
- „Parents spark breakthrough gene therapy for children with Tay-Sachs disease”. The Independent (на језику: енглески). 2022-02-18. Приступљено 2022-05-26.
irishcentral.com
- „NY community warned to get tested for Irish curse of Tay Sachs”. IrishCentral.com (на језику: енглески). 2014-08-13. Приступљено 2022-02-28.
medscape.com
emedicine.medscape.com
nih.gov
ncbi.nlm.nih.gov
- Myerowitz, Rachel (1997). „Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex a gene”. Human Mutation. 9 (3): 195—208. PMID 9090523. S2CID 22587938. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7..
- Lazarin, G. A.; Haque, I. S.; Nazareth, S.; Iori, K.; Patterson, A. S.; Jacobson, J. L.; Marshall, J. R.; Seltzer, W. K.; Patrizio, P.; Evans, E. A.; Srinivasan, B. S. (2013). „An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals”. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15 (3): 178—186. PMC 3908551 . PMID 22975760. doi:10.1038/gim.2012.114.
- Rozenberg, Roberto; Pereira, Lygia da Veiga (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. PMID 11500789. doi:10.1590/s1516-31802001000400007..
- Lane, A. B.; Young, E.; Jenkins, T. (1980). „Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family”. Am. J. Hum Genet. 32 (6): 920—926. PMC 1686159 . PMID 7446530.
- Myerowitz, R.; Costigan, F. C. (1988). „The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase”. The Journal of Biological Chemistry. 263 (35): 18587—18589. PMID 2848800. doi:10.1016/S0021-9258(18)37323-X .
- Frisch, Amos; Colombo, Roberto; Michaelovsky, Elena; Karpati, Mazal; Goldman, Boleslaw; Peleg, Leah (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. PMID 14727180. S2CID 10768286. doi:10.1007/s00439-003-1072-8.
- Nolan, D.; Carlson, M. (јун 2016). „Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis”. Journal of Child Neurology. 31 (7): 887—94. PMID 26863999. S2CID 206552341. doi:10.1177/0883073815627880..
- Barritt, A. W.; Anderson, S. J.; Leigh, P. N.; Ridha, B. H. (октобар 2017). „Late-onset Tay-Sachs disease” (PDF). Pract Neurol. 17 (5): 396—399. PMID 28739864. S2CID 7351651. doi:10.1136/practneurol-2017-001665..
- Kaback, Michael M. (2000). „Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model”. European Journal of Pediatrics. 159: S192—S195. ISSN 1432-1076. PMID 11216898. S2CID 5808156. doi:10.1007/PL00014401.
- Myerowitz, R.; Costigan, F. C. (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. PMID 2848800. doi:10.1016/S0021-9258(18)37323-X .
- McDowell, G. A.; Mules, E. H.; Fabacher, P.; Shapira, E.; Blitzer, M. G. (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, Bronya J. B.; Elston, Robert C.; Andermann, Eva; Rao, D. C. (1987). „Pedigree discriminant analysis of two French Canadian Tay-Sachs families”. Genetic Epidemiology. 4 (2): 77—85. PMID 2953646. S2CID 23770703. doi:10.1002/gepi.1370040203.
- De Braekeleer, M.; Hechtman, P.; Andermann, E.; Kaplan, F. (1992). „The French Canadian Tay-Sachs disease deletion mutation: Identification of probable founders”. Human Genetics. 89 (1): 83—87. PMID 1577470. S2CID 19278804. doi:10.1007/BF00207048.
- Fraikor, Arlene L. (1977). „Tay‐Sachs disease: Genetic drift among the Ashkenazim Jews”. Social Biology. 24 (2): 117—134. PMID 897699. doi:10.1080/19485565.1977.9988272..
- Ohno, K.; Suzuki, K. (1988). „Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease”. Journal of Biological Chemistry. 263 (34): 18563—18567. PMID 2973464. doi:10.1016/S0021-9258(19)81396-0 ..
- Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A.; Toro, C.; Shirvan, L.; Tifft, C. (1993). „HEXA Disorders”. PMID 20301397..
- Chin, E.; Bean, L.; Coffee, B.; Hegde, M. R. (август 2009). „Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease”. Hum Genet. 126 (2): 329. PMID 19644708. S2CID 37396984. doi:10.1007/s00439-009-0717-7..
- Mahuran, Don J. (1999). „Biochemical consequences of mutations causing the GM2 gangliosidoses”. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1455 (2–3): 105—138. PMID 10571007. doi:10.1016/S0925-4439(99)00074-5..
- Specola, N.; Vanier, M. T.; Goutieres, F.; Mikol, J.; Aicardi, J. (1990). „The juvenile and chronic forms of GM2 gangliosidosis: Clinical and enzymatic heterogeneity”. Neurology. 40 (1): 145—150. PMID 2136940. S2CID 19301606. doi:10.1212/wnl.40.1.145.
- Saleh, Osama; MacQueen, G. M.; Clarke, J. T.; Callahan, J. W.; Strasberg, P. M.; Mazurek, M. F. (2000). „Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature”. Jefferson Journal of Psychiatry. 15 (8): 347—353. PMID 7635850. doi:10.29046/JJP.015.1.006.
- Willner, J. P.; Grabowski, G. A.; Gordon, R. E.; Bender, A. N.; Desnick, R. J. (1981). „Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases”. Neurology. 31 (7): 787—798. PMID 6454083. S2CID 27305940. doi:10.1212/wnl.31.7.787.
- Hechtman, Peter; Kaplan, Feige (1993). „Tay–Sachs Disease Screening and Diagnosis: Evolving Technologies”. DNA and Cell Biology. 12 (8): 651—665. PMID 8397824. doi:10.1089/dna.1993.12.651..
- Tittarelli, R.; Giagheddu, M.; Spadetta, V. (1966). „Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome”. British Journal of Ophthalmology. 50 (7): 414—420. PMC 506244 . PMID 5947589. doi:10.1136/bjo.50.7.414.
- Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira (2009). „"Cherry red spot" in a patient with Tay-Sachs disease: Case report”. Arquivos Brasileiros de Oftalmologia. 72 (4): 537—539. PMID 19820796. doi:10.1590/S0004-27492009000400019..
- Seshadri, R.; Christopher, R.; Arvinda, H. R. (2011). „Teaching Neuro Images: MRI in infantile Sandhoff disease”. Neurology. 77 (5): e34. PMID 21810694. S2CID 40494692. doi:10.1212/WNL.0b013e318227b215..
- Sutton, V. Reid (2002). „Tay-Sachs disease screening and counseling families at risk for metabolic disease”. Obstetrics and Gynecology Clinics of North America. 29 (2): 287—296. ISSN 0889-8545. PMID 12108829. doi:10.1016/s0889-8545(01)00002-x.
- Kronn, D.; Jansen, V.; Ostrer, H. (1998). „Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: The first 1000 cases at New York University Medical Center, New York, NY”. Archives of Internal Medicine. 158 (7): 777—781. PMID 9554684. doi:10.1001/archinte.158.7.777.
- 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 = Revista Paulista de Medicina. 119 (4): 146—149. PMID 11500789. doi:10.1590/s1516-31802001000400007.
- ACOG Committee on Genetics (2005). „ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease”. Obstetrics and Gynecology. 106 (4): 893—894. PMID 16199656. doi:10.1097/00006250-200510000-00054.
- Lew, R. M.; Burnett, L.; Proos, A. L.; Barlow-Stewart, K.; Delatycki, M. B.; Bankier, A.; Aizenberg, H.; Field, M. J.; Berman, Y.; Fleischer, R.; Fietz, M. (2015). „Ashkenazi Jewish population screening for Tay-Sachs disease: The international and Australian experience”. Journal of Paediatrics and Child Health. 51 (3): 271—279. PMID 24923490. S2CID 206133450. doi:10.1111/jpc.12632.
- Natowicz, M. R.; Prence, E. M. (1996). „Heterozygote screening for Tay-Sachs disease: Past successes and future challenges”. Current Opinion in Pediatrics. 8 (6): 625—629. PMID 9018448. doi:10.1097/00008480-199612000-00014.
- Prasad, Vinod K.; Mendizabal, Adam; Parikh, Suhag H.; Szabolcs, Paul; Driscoll, Timothy A.; Page, Kristin; Lakshminarayanan, Sonali; Allison, June; Wood, Susan; Semmel, Deborah; Escolar, Maria L.; Martin, Paul L.; Carter, Shelly; Kurtzberg, Joanne (2008). „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. ISSN 0006-4971. PMC 2556628 . PMID 18587012. doi:10.1182/blood-2008-03-140830.
- 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.; Jiang, Xuntian; Bateman, Scot; Spanakis, Spiro G.; Parzych, Julia; Keeler, Allison M.; Abayazeed, Aly; Rohatgi, Saurabh; Gibson, Laura; Finberg, Robert; Barton, Bruce A.; Vardar, Zeynep; Shazeeb, Mohammed Salman; Gounis, Matthew; Tifft, Cynthia J.; Eichler, Florian S.; Brown, Robert H.; Martin, Douglas R.; Gray-Edwards, Heather L.; Sena-Esteves, Miguel (2022). „AAV gene therapy for Tay-Sachs disease”. Nature Medicine. 28 (2): 251—259. ISSN 1078-8956. PMID 35145305. S2CID 246748772. doi:10.1038/s41591-021-01664-4.
pubmed.ncbi.nlm.nih.gov
- Sutton, V. Reid (2002). „Tay-Sachs disease screening and counseling families at risk for metabolic disease”. Obstetrics and Gynecology Clinics of North America. 29 (2): 287—296. ISSN 0889-8545. PMID 12108829. doi:10.1016/s0889-8545(01)00002-x.
omim.org
- „OMIM Entry - # 272800 - TAY-SACHS DISEASE; TSD”. omim.org (на језику: енглески). Приступљено 2022-03-01.
- „OMIM Entry - # 272800 - TAY-SACHS DISEASE; TSD”. omim.org (на језику: енглески). Приступљено 2022-05-27.
semanticscholar.org
api.semanticscholar.org
- Myerowitz, Rachel (1997). „Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex a gene”. Human Mutation. 9 (3): 195—208. PMID 9090523. S2CID 22587938. doi:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7..
- Frisch, Amos; Colombo, Roberto; Michaelovsky, Elena; Karpati, Mazal; Goldman, Boleslaw; Peleg, Leah (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. PMID 14727180. S2CID 10768286. doi:10.1007/s00439-003-1072-8.
- Nolan, D.; Carlson, M. (јун 2016). „Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis”. Journal of Child Neurology. 31 (7): 887—94. PMID 26863999. S2CID 206552341. doi:10.1177/0883073815627880..
- Barritt, A. W.; Anderson, S. J.; Leigh, P. N.; Ridha, B. H. (октобар 2017). „Late-onset Tay-Sachs disease” (PDF). Pract Neurol. 17 (5): 396—399. PMID 28739864. S2CID 7351651. doi:10.1136/practneurol-2017-001665..
- Kaback, Michael M. (2000). „Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model”. European Journal of Pediatrics. 159: S192—S195. ISSN 1432-1076. PMID 11216898. S2CID 5808156. doi:10.1007/PL00014401.
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