118 related articles for article (PubMed ID: 818611)
21. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
Scott HS; Litjens T; Hopwood JJ; Morris CP
Hum Mutat; 1992; 1(2):103-8. PubMed ID: 1301196
[TBL] [Abstract][Full Text] [Related]
22. 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; 116(1):47-54. PubMed ID: 6797759
[TBL] [Abstract][Full Text] [Related]
23. The clinical spectrum of alpha-L-iduronidase deficiency.
Roubicek M; Gehler J; Spranger J
Am J Med Genet; 1985 Mar; 20(3):471-81. PubMed ID: 3922223
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Enzyme-replacement therapy in mucopolysaccharidosis I.
Kakkis ED; Muenzer J; Tiller GE; Waber L; Belmont J; Passage M; Izykowski B; Phillips J; Doroshow R; Walot I; Hoft R; Neufeld EF
N Engl J Med; 2001 Jan; 344(3):182-8. PubMed ID: 11172140
[TBL] [Abstract][Full Text] [Related]
27. The molecular basis of mucopolysaccharidosis type I in two Thai patients.
Ketudat Cairns JR; Keeratichamroen S; Sukcharoen S; Champattanachai V; Ngiwsara L; Lirdprapamongkol K; Liammongkolkul S; Srisomsap C; Surarit R; Wasant P; Svasti J
Southeast Asian J Trop Med Public Health; 2005 Sep; 36(5):1308-12. PubMed ID: 16438163
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
Conway J; Dyack S; Crooks BN; Fernandez CV
J Pediatr; 2005 Jul; 147(1):106-8. PubMed ID: 16027706
[TBL] [Abstract][Full Text] [Related]
30. [Fluorometric determination of alpha-L-iduronidase activity in leukocytes and blood plasma in Hurler's disease].
Gusina NB; Tsukerman GL
Lab Delo; 1988; (7):46-9. PubMed ID: 2460681
[No Abstract] [Full Text] [Related]
31. 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]
32. Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
Orii T; Sukegawa K; Minami R; Matsuura Y; Tsugawa S
Tohoku J Exp Med; 1976 Oct; 120(2):113-23. PubMed ID: 136068
[TBL] [Abstract][Full Text] [Related]
33. Enzymic detection of metachromatic leukodystrophy patients and heterozygotes.
Jordan TW; Casey B; Weston HJ
N Z Med J; 1977 May; 85(587):369-72. PubMed ID: 23508
[TBL] [Abstract][Full Text] [Related]
34. Fluorometric assay of alpha-L-iduronidase in serum for detection of affected and carrier animals in a canine model of mucopolysaccharidosis I.
Shull RM; Hastings NE
Clin Chem; 1985 Jun; 31(6):826-7. PubMed ID: 3922649
[TBL] [Abstract][Full Text] [Related]
35. [Alpha-L-iduronidase activity in fibroblasts of patients with Hurler syndrome].
Stareprawo G; Grimm U; Machill G; Knapp A; Wehnert M
Acta Biol Med Ger; 1975; 34(6):1079-82. PubMed ID: 812313
[No Abstract] [Full Text] [Related]
36. 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; 26(5):414-21. PubMed ID: 6437709
[TBL] [Abstract][Full Text] [Related]
37. Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I.
Mandelli J; Wajner A; Pires R; Giugliani R; Coelho JC
Clin Chim Acta; 2002 Apr; 318(1-2):83-9. PubMed ID: 11880116
[TBL] [Abstract][Full Text] [Related]
38. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).
Wraith JE; Beck M; Lane R; van der Ploeg A; Shapiro E; Xue Y; Kakkis ED; Guffon N
Pediatrics; 2007 Jul; 120(1):e37-46. PubMed ID: 17606547
[TBL] [Abstract][Full Text] [Related]
39. [Mucopolysaccharidosis type I in the Cuban population].
Menéndez-Sainz C; Zaldívar-Muñoz C; González-Quevedo A
Rev Neurol; 2003 Sep 16-30; 37(6):525-8. PubMed ID: 14533069
[TBL] [Abstract][Full Text] [Related]
40. Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.
Valayannopoulos V; de Blic J; Mahlaoui N; Stos B; Jaubert F; Bonnet D; Fischer A; de Lonlay P
Pediatrics; 2010 Nov; 126(5):e1242-7. PubMed ID: 20974778
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]