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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 87574)

  • 1. Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes.
    Stirling JL; Robinson D; Fensom AH; Benson PF; Baker JE
    Lancet; 1978 Jan; 1(8056):147. PubMed ID: 87574
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. Clinical ultrastructural and tissue culture studies in a possible compound Hurler-Scheie case.
    Tondeur M; Vamos-Hurwitz E; Cantz M; Cremer N; Libert J; Pardou A
    Acta Paediatr Belg; 1976; 29(2):109-15. PubMed ID: 826105
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.
    Stevenson RE; Howell RR; McKusick VA; Suskind R; Hanson JW; Elliott DE; Neufeld EF
    Pediatrics; 1976 Jan; 57(1):111-22. PubMed ID: 813180
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The use of alpha-L-iduronidase activity determinations in leucocytes for the detection of Hurler and Scheie syndromes.
    Liem KO; Hooghwinkel GJ
    Clin Chim Acta; 1975 Apr; 60(2):259-62. PubMed ID: 805007
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
    Keith O; Scully C; Weidmann GM
    Oral Surg Oral Med Oral Pathol; 1990 Jul; 70(1):70-4. PubMed ID: 2115154
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.
    Fortuin JJ; Kleijer WJ
    Hum Genet; 1980 Feb; 53(2):155-9. PubMed ID: 6766899
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. Biochemical discrimination of Hurler and Scheie syndromes.
    Hopwood JJ; Muller V
    Clin Sci (Lond); 1979 Sep; 57(3):265-72. PubMed ID: 38945
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Differential diagnosis of Scheie's syndrome (MPS I S) and Hurler-Scheie syndrome (MPS I H-S). Presentation of a case of probable Scheie's syndrome].
    Fasce L; Buoncompagni A; Scribanis R; Tomà P; Iester A
    Minerva Pediatr; 1988 Apr; 40(4):247-51. PubMed ID: 3139978
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Hurler-Scheie phenotype associated with consanguinity.
    Davies DL; Dutton GN; Farquharson J; Logan RW; Tolmie JL
    J Inherit Metab Dis; 1989; 12 Suppl 2():365-8. PubMed ID: 2512446
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.