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Journal Abstract Search

113 related items for PubMed ID: 6289358

  • 1. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.
    Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL.
    Prog Clin Biol Res; 1982; 95():33-65. PubMed ID: 6289358
    [No Abstract] [Full Text] [Related]

  • 2. Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
    Matoth Y, Chazan S, Cnaan A, Gelernter I, Klibansky C.
    Am J Med Genet; 1987 Jul; 27(3):561-5. PubMed ID: 3631130
    [Abstract] [Full Text] [Related]

  • 3. Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations.
    Svennerholm L, Dreborg S, Erikson A, Groth CG, Hillborg PO, Håkansson G, Nilsson O, Tibblin E.
    Prog Clin Biol Res; 1982 Jul; 95():67-94. PubMed ID: 6812091
    [No Abstract] [Full Text] [Related]

  • 4. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.
    Beutler E, Kuhl W.
    J Lab Clin Med; 1970 Nov; 76(5):747-55. PubMed ID: 5477334
    [No Abstract] [Full Text] [Related]

  • 5. [The possibility of increasing the precision of biochemical diagnostics of Gaucher disease].
    Horovenko NH, Drozdova VD, Nedoboĭ AM, Ol'khovych NV, Pichkur NO, Tsyhankova MA, Radzikhovs'ka OV.
    Tsitol Genet; 2006 Nov; 40(3):67-71. PubMed ID: 16933855
    [Abstract] [Full Text] [Related]

  • 6. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis.
    Grabowski GA, Dinur T, Gatt S, Desnick RJ.
    Prog Clin Biol Res; 1982 Nov; 95():573-95. PubMed ID: 6812087
    [No Abstract] [Full Text] [Related]

  • 7. Homozygote and heterozygote identification.
    Wenger DA, Roth S.
    Prog Clin Biol Res; 1982 Nov; 95():551-72. PubMed ID: 6812086
    [No Abstract] [Full Text] [Related]

  • 8. Heterozygote detection of type I Gaucher disease using blood platelets.
    Nakagawa S, Kumin S, Sachs G, Nitowsky HM.
    Prog Clin Biol Res; 1982 Nov; 95():597-602. PubMed ID: 6812088
    [No Abstract] [Full Text] [Related]

  • 9. Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis.
    Lee RE, Robinson DB, Glew RH.
    Arch Pathol Lab Med; 1981 Feb; 105(2):102-4. PubMed ID: 6779779
    [Abstract] [Full Text] [Related]

  • 10. Clinical diversity in Gaucher's disease.
    Sack GH.
    Johns Hopkins Med J; 1980 Apr; 146(4):166-70. PubMed ID: 7366062
    [No Abstract] [Full Text] [Related]

  • 11. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.
    Eur J Hum Genet; 2000 Feb; 8(2):95-102. PubMed ID: 10757640
    [Abstract] [Full Text] [Related]

  • 12. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E, Pires RF, Cizmarik M, Grabowski GA.
    Mol Genet Metab; 2007 Jan; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 13. Clinical and enzyme studies in Gaucher disease.
    Kaur M, Kabra M, Kher A, Naik G, Bharucha BA, Verma IC.
    Indian Pediatr; 1996 Sep; 33(9):735-8. PubMed ID: 9057400
    [Abstract] [Full Text] [Related]

  • 14. Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions.
    Borry P, Clarke A, Dierickx K.
    Eur J Hum Genet; 2008 Feb; 16(2):139-40. PubMed ID: 18043719
    [No Abstract] [Full Text] [Related]

  • 15. Clinical variation in 2 related children with neuronopathic Gaucher disease.
    Grover WD, Tucker SH, Wenger DA.
    Ann Neurol; 1978 Mar; 3(3):281-3. PubMed ID: 96723
    [Abstract] [Full Text] [Related]

  • 16. Population study of chronic Gaucher's disease.
    Fried K.
    Isr J Med Sci; 1973 Mar; 9(9):1396-8. PubMed ID: 4775122
    [No Abstract] [Full Text] [Related]

  • 17. Assay of beta-glucosidase and sphingomyelinase for identification of patients and carriers of Gaucher's and Niemann-Pick diseases.
    Wenger DA.
    Adv Exp Med Biol; 1978 Mar; 101():707-17. PubMed ID: 208369
    [No Abstract] [Full Text] [Related]

  • 18. Assay of the beta-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the Norrbottnian type (Type 3) of Gaucher disease.
    Svennerholm L, Håkansson G, Dreborg S.
    Clin Chim Acta; 1980 Sep 25; 106(2):183-93. PubMed ID: 6773705
    [Abstract] [Full Text] [Related]

  • 19. Parkinsonism among Gaucher disease carriers.
    Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E.
    J Med Genet; 2004 Dec 25; 41(12):937-40. PubMed ID: 15591280
    [Abstract] [Full Text] [Related]

  • 20. Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease.
    Gatt S, Dinur T, Desnick RJ.
    Prog Clin Biol Res; 1982 Dec 25; 95():315-31. PubMed ID: 6812076
    [No Abstract] [Full Text] [Related]

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