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Journal Abstract Search

198 related items for PubMed ID: 6015567

  • 1. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.
    Kampine JP, Brady RO, Kanfer JN, Feld M, Shapiro D.
    Science; 1967 Jan 06; 155(3758):86-8. PubMed ID: 6015567
    [Abstract] [Full Text] [Related]

  • 2. 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 Jan 06; 101():707-17. PubMed ID: 208369
    [No Abstract] [Full Text] [Related]

  • 3. The use of white cells as a source of diagnostic material for lipid storage diseases.
    Snyder RA, Brady RO.
    Clin Chim Acta; 1969 Aug 06; 25(2):331-8. PubMed ID: 4895581
    [No Abstract] [Full Text] [Related]

  • 4. Sphingomyelin and glucocerebroside of spleen in cases of Gaucher's and Niemann-Pick's diseases.
    Taketomi T, Yamakawa T.
    Jpn J Exp Med; 1967 Oct 06; 37(5):505-9. PubMed ID: 5303496
    [No Abstract] [Full Text] [Related]

  • 5. 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 06; 317(1-2):191-7. PubMed ID: 11814475
    [Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.
    Chazan S, Zitman D, Klibansky C.
    Clin Chim Acta; 1978 May 16; 86(1):45-9. PubMed ID: 207472
    [Abstract] [Full Text] [Related]

  • 7. [Biological diagnosis of Gaucher's disease].
    Berhoune A, Zenati A, Bellahsene Z, Khiari M, Maiza H, Zighout M, Khati S, Oukaci Y, Khati B.
    Tunis Med; 1980 May 16; 58(1-2):452-7. PubMed ID: 6782723
    [No Abstract] [Full Text] [Related]

  • 8. [Comparative study of 3 types sphingolipidosis: Gaucher's disease, Niemann-Pick disease and the "sea-blue" histiocyte syndrome: cytology, ultrastructure and cytochemistry].
    Khodjet El Khil A, Chadli A, Ennouri A.
    Arch Inst Pasteur Tunis; 1982 May 16; 59(2-3):283-301. PubMed ID: 6301393
    [No Abstract] [Full Text] [Related]

  • 9. Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.
    Pandi S, Chandran V, Deshpande A, Kurien A.
    BMJ Case Rep; 2014 May 08; 2014():. PubMed ID: 24811560
    [Abstract] [Full Text] [Related]

  • 10. [Gaucher's disease or atypical lipid thesaurismosis?].
    Siegenthaler P, Jeanneret P, Perrenoud JP.
    Helv Med Acta; 1967 May 08; 34(1):Suppl:127. PubMed ID: 5589181
    [No Abstract] [Full Text] [Related]

  • 11. Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease.
    Fujiwaki T, Tasaka M, Yamaguchi S.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul 15; 870(2):170-6. PubMed ID: 18502707
    [Abstract] [Full Text] [Related]

  • 12. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.
    Gal AE, Brady RO, Hibbert SR, Pentchev PG.
    N Engl J Med; 1975 Sep 25; 293(13):632-6. PubMed ID: 239343
    [Abstract] [Full Text] [Related]

  • 13. Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease.
    Smanik EJ, Tavill AS, Jacobs GH, Schafer IA, Farquhar L, Weber FL, Mayes JT, Schulak JA, Petrelli M, Zirzow GC.
    Hepatology; 1993 Jan 25; 17(1):42-9. PubMed ID: 8423040
    [Abstract] [Full Text] [Related]

  • 14. The lipid storage diseases: new concepts and control.
    Brady RO.
    Ann Intern Med; 1975 Feb 25; 82(2):257-61. PubMed ID: 163609
    [Abstract] [Full Text] [Related]

  • 15. Biochemical approaches to the nosology of nervous system defects, II.
    Brady RO.
    Birth Defects Orig Artic Ser; 1971 Feb 25; 7(1):33-6. PubMed ID: 4376033
    [Abstract] [Full Text] [Related]

  • 16. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
    Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.
    Mol Genet Metab; 2018 Feb 25; 123(2):76-84. PubMed ID: 29290526
    [Abstract] [Full Text] [Related]

  • 17. [Gaucher's disease or atypical lipid thesaurismosis?].
    Siegenthaler P, Jeanneret P, Perrenoud JP.
    Helv Med Acta Suppl; 1967 May 28; 47():127. PubMed ID: 4255645
    [No Abstract] [Full Text] [Related]

  • 18. Clinical and biochemical diagnostics of Niemann-Pick disease.
    Maciejko D, Tylki-Szymańska A.
    Klin Padiatr; 1986 May 28; 198(2):103-6. PubMed ID: 3009958
    [Abstract] [Full Text] [Related]

  • 19. [Sphingolipidoses].
    GERMAIN D.
    Med Infant (Paris); 1963 May 28; 70():361-8. PubMed ID: 13960505
    [No Abstract] [Full Text] [Related]

  • 20. Sphingolipidoses.
    Yatsu FM.
    Calif Med; 1971 Apr 28; 114(4):1-6. PubMed ID: 5551302
    [Abstract] [Full Text] [Related]

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