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2. 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]
3. 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]
4. 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]
6. 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]
7. 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]
8. Residual activity in fibroblasts from two brothers with the late-onset form of N-acetylgalactosamine-6-sulphate sulphatase deficiency. Sukegawa K; Orii T J Inherit Metab Dis; 1982; 5(4):231-2. PubMed ID: 6820446 [No Abstract] [Full Text] [Related]
9. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. Fukuda S; Tomatsu S; Masue M; Sukegawa K; Iwata H; Ogawa T; Nakashima Y; Hori T; Yamagishi A; Hanyu Y J Clin Invest; 1992 Sep; 90(3):1049-53. PubMed ID: 1522213 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. Nakamura-Utsunomiya A; Nakamae T; Kagawa R; Karakawa S; Sakata S; Sakura F; Tani C; Matsubara Y; Ishino T; Tajima G; Okada S Int J Mol Sci; 2020 Feb; 21(3):. PubMed ID: 32024277 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Tomatsu S; Fukuda S; Masue M; Sukegawa K; Fukao T; Yamagishi A; Hori T; Iwata H; Ogawa T; Nakashima Y Biochem Biophys Res Commun; 1991 Dec; 181(2):677-83. PubMed ID: 1755850 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Late diagnosis of Morquio syndrome. Clinical histopathological findings in a rare mucopolysaccharidosis]. Gösele S; Dithmar S; Holz FG; Völcker HE Klin Monbl Augenheilkd; 2000 Aug; 217(2):114-7. PubMed ID: 11022666 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part I: Clinical and biochemical findings. Nelson J; Broadhead D; Mossman J Clin Genet; 1988 Feb; 33(2):111-20. PubMed ID: 3129221 [TBL] [Abstract][Full Text] [Related]
19. Clinical, biochemical and molecular findings in a two-generation Morquio A family. Tylki-Szymańska A; Czartoryska B; Bunge S; van Diggelen OP; Kleijer WJ; Poorthuis BJ; Huijmans JG; Górska D Clin Genet; 1998 May; 53(5):369-74. PubMed ID: 9660054 [TBL] [Abstract][Full Text] [Related]
20. Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Catarzi S; Giunti L; Papadia F; Gabrielli O; Guerrini R; Donati MA; Genuardi M; Morrone A Mol Genet Metab; 2012 Mar; 105(3):438-42. PubMed ID: 22178352 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]