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Journal Abstract Search

139 related items for PubMed ID: 4205146

  • 1. Editorial: The use of tears for heterozygote detection and genetic counseling.
    Goldberg MF.
    Invest Ophthalmol; 1974 Mar; 13(3):159-60. PubMed ID: 4205146
    [No Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease.
    Del Monte MA, Johnson DL, Cotlier E, Desnick RJ.
    Birth Defects Orig Artic Ser; 1976 Mar; 12(3):209-19. PubMed ID: 8173
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
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  • 5. Mail screening for inborn errors of metabolism with tears.
    Cotlier E, Kivlin J, Del Monte MA.
    Birth Defects Orig Artic Ser; 1976 Mar; 12(3):105-14. PubMed ID: 953195
    [No Abstract] [Full Text] [Related]

  • 6. Tay-Sachs disease--the use of tears for the detection of heterozygotes.
    Carmody PJ, Rattazzi MC, Davidson RG.
    N Engl J Med; 1973 Nov 15; 289(20):1072-4. PubMed ID: 4742222
    [No Abstract] [Full Text] [Related]

  • 7. Editorial: Heterozygote screening--a social challenge.
    Kaback MM.
    N Engl J Med; 1973 Nov 15; 289(20):1090-1. PubMed ID: 4742226
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
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  • 9. Fabry disease: diagnosis by alpha-galactosidase activities in tears.
    Johnson DL, Del Monte MA, Cotlier E, Desnick RJ.
    Clin Chim Acta; 1975 Aug 18; 63(1):81-90. PubMed ID: 241513
    [Abstract] [Full Text] [Related]

  • 10. Different gene mutations in variants of GM1- and GM2-gangliosidosis demonstrated by enzyme analysis of (single) somatic hybrid cells.
    Galjaard H, Hoogeveen A, Keijzer W, de Wit-Verbeek HA, Reuser AJ.
    Cytogenet Cell Genet; 1975 Aug 18; 14(3-6):320-6. PubMed ID: 1192809
    [No Abstract] [Full Text] [Related]

  • 11. Carrier screening techniques for Tay-Sachs and other lysosomal storage diseases.
    Kolodny EH.
    Prog Clin Biol Res; 1977 Aug 18; 18():213-9. PubMed ID: 601077
    [No Abstract] [Full Text] [Related]

  • 12. Multiple forms of glycosidases in the normal and pathological states.
    Robinson D.
    Enzyme; 1974 Aug 18; 18(1):114-35. PubMed ID: 4277585
    [No Abstract] [Full Text] [Related]

  • 13. An enzymological approach to the lipidoses.
    Tallman JF, Pentchev PG, Brady RO.
    Enzyme; 1974 Aug 18; 18(1):136-49. PubMed ID: 4211795
    [No Abstract] [Full Text] [Related]

  • 14. Studies in Tay-Sachs and Sandhoff's diseases. Immunologic and structural properties of hexosaminidase A and hexosaminidase B.
    Beutler E, Srivastava SK.
    Isr J Med Sci; 1973 Aug 18; 9(9):1335-7. PubMed ID: 4798071
    [No Abstract] [Full Text] [Related]

  • 15. Genetic variants of hexosaminidase deficiency.
    Patrick AD.
    Prog Clin Biol Res; 1977 Aug 18; 18():147-59. PubMed ID: 414238
    [No Abstract] [Full Text] [Related]

  • 16. Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A.
    Del Monte MA, Johnson DL, Cotlier E, Krivit W, Desnick RJ.
    N Engl J Med; 1974 Jan 03; 290(1):57-8. PubMed ID: 4202326
    [No Abstract] [Full Text] [Related]

  • 17. A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay.
    Desnick RJ, Truex JH, Goldberg JD.
    Prog Clin Biol Res; 1977 Jan 03; 18():245-65. PubMed ID: 23556
    [No Abstract] [Full Text] [Related]

  • 18. An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.
    Galjaard H, Niermeijer MF, Hahnemann N, Mohr J, Sorensen SA.
    Clin Genet; 1974 Jan 03; 5(4):368-77. PubMed ID: 4211797
    [No Abstract] [Full Text] [Related]

  • 19. Letter: Intestinal biopsy in lysosomal storage disease.
    Den Tandt WR, Vio PM, Eggermont E.
    Lancet; 1974 Nov 09; 2(7889):1149. PubMed ID: 4139453
    [No Abstract] [Full Text] [Related]

  • 20. [Possibilities for diminution of the genetic risk in the population].
    Knapp A, Machill G.
    Z Arztl Fortbild (Jena); 1976 Aug 15; 69(16):845-51. PubMed ID: 1244694
    [No Abstract] [Full Text] [Related]

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