146 related articles for article (PubMed ID: 1907053)
1. [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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
3. 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; 24(6):1135-44. PubMed ID: 1781792
[TBL] [Abstract][Full Text] [Related]
4. 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; 28(1):233-43. PubMed ID: 3118714
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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; 92(2):257-65. PubMed ID: 114339
[TBL] [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; 2(3):71-4. PubMed ID: 6796763
[TBL] [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; 109(4):377-81. PubMed ID: 23786846
[TBL] [Abstract][Full Text] [Related]
9. 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; 130(4):381-4. PubMed ID: 6781103
[TBL] [Abstract][Full Text] [Related]
10. 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; 65(3):268-72. PubMed ID: 6421718
[TBL] [Abstract][Full Text] [Related]
11. Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.
Mueller OT; Shows TB; Opitz JM
Am J Med Genet; 1984 Jul; 18(3):547-56. PubMed ID: 6433708
[TBL] [Abstract][Full Text] [Related]
12. 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; 2(8132):37. PubMed ID: 87908
[No Abstract] [Full Text] [Related]
13. Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection.
Wappner RS; Brandt IK
Pediatr Res; 1976 Jun; 10(6):629-32. PubMed ID: 818611
[TBL] [Abstract][Full Text] [Related]
14. 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; 6(1):55-9. PubMed ID: 7550232
[TBL] [Abstract][Full Text] [Related]
15. Studies on the alpha-L-iduronidase activity of beta-glucuronidase preparations from bovine liver, rat liver, and rat preputial gland.
Kosaka H; Isemura M; Ono T; Nishimura Y; Kato K
J Biochem; 1980 Jul; 88(1):69-75. PubMed ID: 7410341
[TBL] [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; 111(2):113-5. PubMed ID: 24332804
[TBL] [Abstract][Full Text] [Related]
17. Absence of alpha-L-iduronidase activity in various tissues from two sibs affected with presumably the Hurler-Scheie compound syndrome.
Thompson JN; Finley SC; Lorincz AE; Finley WH
Birth Defects Orig Artic Ser; 1975; 11(6):341-6. PubMed ID: 811284
[No Abstract] [Full Text] [Related]
18. Characteristics of leukocyte and plasma methylumbelliferyl-alpha-L-iduronide iduronidase.
Den Tandt WR; Scharpe S
Biochem Med Metab Biol; 1989 Feb; 41(1):18-24. PubMed ID: 2713148
[TBL] [Abstract][Full Text] [Related]
19. 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; 122(2):103-5. PubMed ID: 817912
[TBL] [Abstract][Full Text] [Related]
20. 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; 1(2):121-4. PubMed ID: 6810332
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
