These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

113 related items for PubMed ID: 1627351

  • 1. Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein.
    Brooks DA, Harper GS, Gibson GJ, Ashton LJ, Taylor JA, McCourt PA, Freeman C, Clements PR, Hoffmann JW, Hopwood JJ.
    Biochem Med Metab Biol; 1992 Jun; 47(3):211-20. PubMed ID: 1627351
    [Abstract] [Full Text] [Related]

  • 2. 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; 50(4):787-94. PubMed ID: 1550122
    [Abstract] [Full Text] [Related]

  • 3. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
    Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ.
    Mol Genet Metab; 2013 Aug; 109(4):377-81. PubMed ID: 23786846
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
    Hein LK, Hopwood JJ, Clements PR, Brooks DA.
    Biochim Biophys Acta; 2003 Oct 15; 1639(2):95-103. PubMed ID: 14559116
    [Abstract] [Full Text] [Related]

  • 7. A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes.
    Hopwood JJ, Muller V, Smithson A, Baggett N.
    Clin Chim Acta; 1979 Mar 01; 92(2):257-65. PubMed ID: 114339
    [Abstract] [Full Text] [Related]

  • 8. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
    Bunge S, Clements PR, Byers S, Kleijer WJ, Brooks DA, Hopwood JJ.
    Biochim Biophys Acta; 1998 Sep 30; 1407(3):249-56. PubMed ID: 9748610
    [Abstract] [Full Text] [Related]

  • 9. Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.
    Fujibayashi S, Minami R, Ishikawa Y, Wagatsuma K, Nakao T, Tsugawa S.
    Hum Genet; 1984 Sep 30; 65(3):268-72. PubMed ID: 6421718
    [Abstract] [Full Text] [Related]

  • 10. 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 Sep 30; 14(2):134-9. PubMed ID: 1909400
    [Abstract] [Full Text] [Related]

  • 11. Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
    Schuchman EH, Desnick RJ.
    J Clin Invest; 1988 Jan 30; 81(1):98-105. PubMed ID: 3121676
    [Abstract] [Full Text] [Related]

  • 12. Glycosidase active site mutations in human alpha-L-iduronidase.
    Brooks DA, Fabrega S, Hein LK, Parkinson EJ, Durand P, Yogalingam G, Matte U, Giugliani R, Dasvarma A, Eslahpazire J, Henrissat B, Mornon JP, Hopwood JJ, Lehn P.
    Glycobiology; 2001 Sep 30; 11(9):741-50. PubMed ID: 11555618
    [Abstract] [Full Text] [Related]

  • 13. [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 Sep 30; 37(1):74-7. PubMed ID: 1907053
    [Abstract] [Full Text] [Related]

  • 14. A canine model of human alpha-L-iduronidase deficiency.
    Spellacy E, Shull RM, Constantopoulos G, Neufeld EF.
    Proc Natl Acad Sci U S A; 1983 Oct 30; 80(19):6091-5. PubMed ID: 6412235
    [Abstract] [Full Text] [Related]

  • 15. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
    Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA.
    J Mol Biol; 2004 Apr 30; 338(3):453-62. PubMed ID: 15081804
    [Abstract] [Full Text] [Related]

  • 16. Standardization of α-L-iduronidase enzyme assay with Michaelis-Menten kinetics.
    Ou L, Herzog TL, Wilmot CM, Whitley CB.
    Mol Genet Metab; 2014 Feb 30; 111(2):113-5. PubMed ID: 24332804
    [Abstract] [Full Text] [Related]

  • 17. alpha-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts.
    Taylor JA, Gibson GJ, Brooks DA, Hopwood JJ.
    Biochem J; 1991 Feb 15; 274 ( Pt 1)(Pt 1):263-8. PubMed ID: 1900419
    [Abstract] [Full Text] [Related]

  • 18. Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells.
    Kakkis ED, Matynia A, Jonas AJ, Neufeld EF.
    Protein Expr Purif; 1994 Jun 15; 5(3):225-32. PubMed ID: 7950365
    [Abstract] [Full Text] [Related]

  • 19. Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
    Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF.
    Hum Mutat; 1995 Jun 15; 6(1):55-9. PubMed ID: 7550232
    [Abstract] [Full Text] [Related]

  • 20. Uptake of a recombinant human alpha-L-iduronidase (laronidase) by cultured fibroblasts and osteoblasts.
    Tsukimura T, Tajima Y, Kawashima I, Fukushige T, Kanzaki T, Kanekura T, Ikekita M, Sugawara K, Suzuki T, Togawa T, Sakuraba H.
    Biol Pharm Bull; 2008 Sep 15; 31(9):1691-5. PubMed ID: 18758061
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.