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 *

171 related articles for article (PubMed ID: 6446239)

  • 1. Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
    Groebe H; Krins M; Schmidberger H; von Figura K; Harzer K; Kresse H; Paschke E; Sewell A; Ullrich K
    Am J Hum Genet; 1980 Mar; 32(2):258-72. PubMed ID: 6446239
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Morquio B syndrome: a primary defect in beta-galactosidase.
    van der Horst GT; Kleijer WJ; Hoogeveen AT; Huijmans JG; Blom W; van Diggelen OP
    Am J Med Genet; 1983 Oct; 16(2):261-75. PubMed ID: 6418007
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.
    van Gemund JJ; Giesberts MA; Eerdmans RF; Blom W; Kleijer WJ
    Hum Genet; 1983; 64(1):50-4. PubMed ID: 6409799
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease.
    Okumiya T; Sakuraba H; Kase R; Sugiura T
    Mol Genet Metab; 2003 Jan; 78(1):51-8. PubMed ID: 12559848
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.
    Arbisser AI; Donnelly KA; Scott CI; DiFerrante N; Singh J; Stevenson RE; Aylesworth AS; Howell RR
    Am J Med Genet; 1977; 1(2):195-205. PubMed ID: 416714
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Galactose 6-sulfate sulfatase activity in Morquio syndrome.
    Yutaka T; Okada S; Kato T; Inui K; Yabuuhi H
    Clin Chim Acta; 1982 Jul; 122(2):169-80. PubMed ID: 6809361
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical defect of non-keratan-sulfate-excreting Morquio syndrome.
    Fujimoto A; Horwitz AL
    Am J Med Genet; 1983 Jun; 15(2):265-73. PubMed ID: 6224421
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heterogeneity of Morquio disease.
    Beck M; Glössl J; Grubisic A; Spranger J
    Clin Genet; 1986 Apr; 29(4):325-31. PubMed ID: 3087664
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Impaired degradation of keratan sulphate by Morquio A fibroblasts.
    Glössl J; Kresse H
    Biochem J; 1982 Apr; 203(1):335-8. PubMed ID: 6213226
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.
    Ohto U; Usui K; Ochi T; Yuki K; Satow Y; Shimizu T
    J Biol Chem; 2012 Jan; 287(3):1801-12. PubMed ID: 22128166
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).
    Giugliani R; Jackson M; Skinner SJ; Vimal CM; Fensom AH; Fahmy N; Sjövall A; Benson PF
    Clin Genet; 1987 Nov; 32(5):313-25. PubMed ID: 3121219
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.
    Hoogeveen AT; Graham-Kawashima H; d'Azzo A; Galjaard H
    J Biol Chem; 1984 Feb; 259(3):1974-7. PubMed ID: 6420416
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
    Glössl J; Kresse H; Mendla K; Cantz M; Rosenkranz W
    Pediatr Res; 1984 Mar; 18(3):302-5. PubMed ID: 6427747
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE; Fukuda S; Gordon BA; Rip JW; LeCouteur AN; Rupar CA; Tomatsu S; Ogawa T; Sukegawa K; Orii T
    Am J Med Genet; 1996 Jun; 63(4):558-65. PubMed ID: 8826435
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).
    van Diggelen OP; Zhao H; Kleijer WJ; Janse HC; Poorthuis BJ; van Pelt J; Kamerling JP; Galjaard H
    Clin Chim Acta; 1990 Feb; 187(2):131-9. PubMed ID: 2107987
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.
    Andria G; Del Giudice E; Reuser AJ
    Clin Genet; 1978 Jul; 14(1):16-23. PubMed ID: 98248
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
    Fateen EM; El Mawgoud HA; Eissa NR; Ibrahim MM; Aglan MS; Essawi ML
    Gene; 2017 Feb; 600():48-54. PubMed ID: 27825773
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate.
    Pshezhetsky AV; Potier M
    J Biol Chem; 1996 Nov; 271(45):28359-65. PubMed ID: 8910459
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.
    O'Brien JS; Gugler E; Giedion A; Wiessmann U; Herschkowitz N; Meier C; Leroy J
    Clin Genet; 1976 May; 9(5):495-504. PubMed ID: 817853
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A microassay for acid beta-galactosidase activity toward asialofetuin.
    Mutoh T; Naoi M; Sobue I; Kiuchi K; Nagatsu T
    Clin Chim Acta; 1985 Nov; 152(3):307-14. PubMed ID: 2415273
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.