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Journal Abstract Search
122 related items for PubMed ID: 1909400
1. 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]
2. [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; 37(1):74-7. PubMed ID: 1907053 [Abstract] [Full Text] [Related]
3. 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]
4. Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk. Kleijer WJ, Thompson EJ, Niermeijer MF. Prenat Diagn; 1983 Jul 01; 3(3):179-86. PubMed ID: 6413967 [Abstract] [Full Text] [Related]
5. Fluorometric measurement of alpha-L-iduronidase activity using 4-methylumbelliferyl-alpha-L-iduronide. Minami R, Watanabe Y, Kudoh T, Oyanagi K, Nakao T. Tohoku J Exp Med; 1980 Apr 01; 130(4):381-4. PubMed ID: 6781103 [Abstract] [Full Text] [Related]
6. 4-Trifluoromethylumbelliferyl glycosides as new substrates for revealing diseases connected with hereditary deficiency of lysosome glycosidases. Karpova EA, Voznyi YaV, Dudukina TV, Tsvetkova IV. Biochem Int; 1991 Aug 01; 24(6):1135-44. PubMed ID: 1781792 [Abstract] [Full Text] [Related]
7. Comparison of the substrate 4-methylumbelliferyl-alpha-l-iduronide with phenyl-alpha-L-iduronide for the diagnosis of Hurler's disease in cultured cells. Butterworth J, Broadhead DM. J Inherit Metab Dis; 1980 Aug 01; 2(3):71-4. PubMed ID: 6796763 [Abstract] [Full Text] [Related]
8. 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 01; 109(4):377-81. PubMed ID: 23786846 [Abstract] [Full Text] [Related]
9. Prenatal diagnosis of two Hurler fetuses using an improved assay for methylumbelliferyl-alpha-L-iduronidase. Stirling JL, Robinson D, Fensom AH, Benson PF, Baker JE, Button LR. Lancet; 1979 Jul 07; 2(8132):37. PubMed ID: 87908 [No Abstract] [Full Text] [Related]
10. Standardization of α-L-iduronidase enzyme assay with Michaelis-Menten kinetics. Ou L, Herzog TL, Wilmot CM, Whitley CB. Mol Genet Metab; 2014 Feb 07; 111(2):113-5. PubMed ID: 24332804 [Abstract] [Full Text] [Related]
11. Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin. Mossman J, Patrick AD, Fensom AH, Tansley LR, Benson PF, Der Kaloustian VM, Dudin G. Prenat Diagn; 1981 Apr 07; 1(2):121-4. PubMed ID: 6810332 [Abstract] [Full Text] [Related]
12. 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 Apr 07; 65(3):268-72. PubMed ID: 6421718 [Abstract] [Full Text] [Related]
13. Characteristics of leukocyte and plasma methylumbelliferyl-alpha-L-iduronide iduronidase. Den Tandt WR, Scharpe S. Biochem Med Metab Biol; 1989 Feb 07; 41(1):18-24. PubMed ID: 2713148 [Abstract] [Full Text] [Related]
14. Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi. Young EP. J Inherit Metab Dis; 1992 Feb 07; 15(2):224-30. PubMed ID: 1527990 [Abstract] [Full Text] [Related]
15. alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome. Omura K, Higami S, Tada K. Eur J Pediatr; 1976 May 04; 122(2):103-5. PubMed ID: 817912 [Abstract] [Full Text] [Related]
16. alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate. Muller VJ, Hopwood JJ. Clin Genet; 1984 Nov 04; 26(5):414-21. PubMed ID: 6437709 [Abstract] [Full Text] [Related]
17. 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]
18. A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome. Whitley CB, Gorlin RJ, Krivit W. Am J Med Genet; 1987 Sep 08; 28(1):233-43. PubMed ID: 3118714 [Abstract] [Full Text] [Related]
19. 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 08; 47(3):211-20. PubMed ID: 1627351 [Abstract] [Full Text] [Related]