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Journal Abstract Search

173 related items for PubMed ID: 1527990

  • 1. Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi.
    Young EP.
    J Inherit Metab Dis; 1992; 15(2):224-30. PubMed ID: 1527990
    [Abstract] [Full Text] [Related]

  • 2. Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.
    Tsvetkova IV, Karpova EA, Voznyi YV, Zolotukhina TV, Biryukov VV, Semyachkina AN.
    J Inherit Metab Dis; 1991; 14(2):134-9. PubMed ID: 1909400
    [Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk.
    Kleijer WJ, Thompson EJ, Niermeijer MF.
    Prenat Diagn; 1983 Jul; 3(3):179-86. PubMed ID: 6413967
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  • 4. Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
    Hug G, Soukup S, Chuck G, Ryan M.
    J Med Genet; 1984 Oct; 21(5):359-63. PubMed ID: 6438322
    [Abstract] [Full Text] [Related]

  • 5. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
    Zhang WM, Shi HP, Li BT, Zhao SM, Qi QW, Sun NH, Huang SZ.
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):644-7. PubMed ID: 17217652
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  • 8. Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.
    Gatti R, Borrone C, Filocamo M, Pannone N, Di Natale P.
    Prenat Diagn; 1985 Sep; 5(2):149-54. PubMed ID: 3921950
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  • 9. Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
    Gatti R, Lombardo C, Filocamo M, Borrone C, Porro E.
    Prenat Diagn; 1985 Sep; 5(5):329-36. PubMed ID: 3934658
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  • 10. Cardiac puncture of fetus with Hurler's disease avoiding abortion of unaffected co-twin.
    Aberg A, Mitelman F, Cantz M, Gehler J.
    Lancet; 1978 Nov 04; 2(8097):990-1. PubMed ID: 82009
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  • 11. Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus.
    Ikeno T, Minami R, Wagatsuma K, Fujibayashi S, Nakao T, Abo K, Tsugawa S, Taniguchi S, Takasago Y.
    Hum Genet; 1981 Nov 04; 59(4):353-9. PubMed ID: 6800929
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  • 12. Prenatal diagnosis of the Hurler syndrome.
    Pedersen C, Schwartz M, Güttler F, Hobolth N.
    Dan Med Bull; 1979 Nov 04; 26(7):357-9. PubMed ID: 160864
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  • 13. Antenatal diagnosis of Hurler's syndrome.
    Henderson HE, Nelson MM.
    S Afr Med J; 1977 Feb 19; 51(8):241-3. PubMed ID: 403618
    [Abstract] [Full Text] [Related]

  • 14. [Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease].
    Tsvetkova IV, Karpova EA, Voznyĭ IaV, Zolotukhina TV, Biriukov VB, Semiachkina AN.
    Vopr Med Khim; 1991 Feb 19; 37(1):74-7. PubMed ID: 1907053
    [Abstract] [Full Text] [Related]

  • 15. The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts.
    Kleijer WJ, Hensing-Wolffers GM, Thompson EJ, Niermeijer MF.
    Clin Chim Acta; 1981 Oct 08; 116(1):47-54. PubMed ID: 6797759
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  • 17. Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi.
    Christensen E, Brandt NJ, Philip J, Bang J.
    Prenat Diagn; 1985 Oct 08; 5(4):299-301. PubMed ID: 4048069
    [Abstract] [Full Text] [Related]

  • 18. First-trimester prenatal diagnosis of aspartylglucosaminuria.
    Aula P, Mattila K, Piiroinen O, Ammälä P, Von Koskull H.
    Prenat Diagn; 1989 Sep 08; 9(9):617-20. PubMed ID: 2798347
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  • 19. Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi.
    Yuen M, Fensom AH.
    J Inherit Metab Dis; 1985 Sep 08; 8(2):80-6. PubMed ID: 3939537
    [Abstract] [Full Text] [Related]

  • 20. Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
    Ashton LJ, Brooks DA, McCourt PA, Muller VJ, Clements PR, Hopwood JJ.
    Am J Hum Genet; 1992 Apr 08; 50(4):787-94. PubMed ID: 1550122
    [Abstract] [Full Text] [Related]

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