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Journal Abstract Search

286 related items for PubMed ID: 11880123

  • 1. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Apr; 318(1-2):133-7. PubMed ID: 11880123
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  • 2. Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening.
    Herbst ZM, Hold S, Gelb MH, Khaledi H.
    Mol Genet Metab; 2024 Aug; 142(4):108517. PubMed ID: 38908075
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  • 3. Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
    Chamoles NA, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2002 Mar; 317(1-2):191-7. PubMed ID: 11814475
    [Abstract] [Full Text] [Related]

  • 4. Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
    Maret A, Salvayre R, Negre A, Bes JC, Douste-Blazy L.
    Biol Cell; 1985 Mar; 53(3):293-6. PubMed ID: 2990625
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  • 5. Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.
    Kodama T, Togawa T, Tsukimura T, Kawashima I, Matsuoka K, Kitakaze K, Tsuji D, Itoh K, Ishida Y, Suzuki M, Suzuki T, Sakuraba H.
    PLoS One; 2011 Mar; 6(12):e29074. PubMed ID: 22205997
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  • 8. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.
    Tropak MB, Reid SP, Guiral M, Withers SG, Mahuran D.
    J Biol Chem; 2004 Apr 02; 279(14):13478-87. PubMed ID: 14724290
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  • 10. Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
    Peleg L, Goldman B.
    Eur J Clin Chem Clin Biochem; 1994 Feb 02; 32(2):65-9. PubMed ID: 8003579
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  • 11. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
    Huang JQ, Trasler JM, Igdoura S, Michaud J, Hanal N, Gravel RA.
    Hum Mol Genet; 1997 Oct 02; 6(11):1879-85. PubMed ID: 9302266
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  • 12. Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
    Lane AB, Young E, Jenkins T.
    Am J Hum Genet; 1980 Nov 02; 32(6):920-6. PubMed ID: 7446530
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  • 13. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
    Gort L, de Olano N, Macías-Vidal J, Coll MA, Spanish GM2 Working Group.
    Gene; 2012 Sep 10; 506(1):25-30. PubMed ID: 22789865
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  • 15. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation.
    Elsafi ME, Elbashir MI, Hultberg B, Isaksson A, Hägerstrand I, Stenram U.
    Scand J Clin Lab Invest; 1991 Dec 10; 51(8):711-4. PubMed ID: 1839650
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  • 16. Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
    Kaur M, Verma IC.
    Indian J Pediatr; 1995 Dec 10; 62(4):485-9. PubMed ID: 10829910
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  • 17. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
    Cantor RM, Lim JS, Roy C, Kaback MM.
    Am J Hum Genet; 1985 Sep 10; 37(5):912-21. PubMed ID: 4050790
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  • 18. Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
    Inui K, Wenger DA.
    Clin Genet; 1984 Oct 10; 26(4):318-21. PubMed ID: 6238730
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  • 19. Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.
    McInnes B, Brown CA, Mahuran DJ.
    Biochim Biophys Acta; 1992 Apr 14; 1138(4):315-7. PubMed ID: 1532910
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  • 20. Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
    Akeboshi H, Chiba Y, Kasahara Y, Takashiba M, Takaoka Y, Ohsawa M, Tajima Y, Kawashima I, Tsuji D, Itoh K, Sakuraba H, Jigami Y.
    Appl Environ Microbiol; 2007 Aug 14; 73(15):4805-12. PubMed ID: 17557860
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