Literature DB >> 7586649

Clinical and molecular analysis of a Japanese boy with Morquio B disease.

N Ishii1, T Oohira, A Oshima, H Sakuraba, F Endo, I Matsuda, K Sukegawa, T Orii, Y Suzuki.   

Abstract

Morquio B disease was found in a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity.

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Year:  1995        PMID： 7586649     DOI： 10.1111/j.1399-0004.1995.tb04065.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

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2.  Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Authors:  Anna Caciotti; Maria Alice Donati; Tiziana Bardelli; Alessandra d'Azzo; Graziella Massai; Luciana Luciani; Enrico Zammarchi; Amelia Morrone
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3.  Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.

Authors:  Z H Wang; B Zeng; H Shibuya; G S Johnson; J Alroy; G M Pastores; S Raghavan; E H Kolodny
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

4.  Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.

Authors:  Hong-Lin Lei; Jun Ye; Wen-Juan Qiu; Hui-Wen Zhang; Lian-Shu Han; Yu Wang; Xue-Fan Gu
Journal:  World J Pediatr       Date:  2012-11-15       Impact factor: 2.764

5.  Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis.

Authors:  Douglas R Martin; Brigitte A Rigat; Polly Foureman; G S Varadarajan; Misako Hwang; Barbara K Krum; Bruce F Smith; John W Callahan; Don J Mahuran; Henry J Baker
Journal:  Mol Genet Metab       Date:  2008-03-18       Impact factor: 4.797

6.  Markers of cellular senescence are elevated in murine blastocysts cultured in vitro: molecular consequences of culture in atmospheric oxygen.

Authors:  Alexandra Meuter; Lisa-Marlen Rogmann; Boris J Winterhoff; Tamar Tchkonia; James L Kirkland; Dean E Morbeck
Journal:  J Assist Reprod Genet       Date:  2014-08-10       Impact factor: 3.412

7.  Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.

Authors:  Iman S Abumansour; Nataliya Yuskiv; Eduard Paschke; Sylvia Stockler-Ipsiroglu
Journal:  JIMD Rep       Date:  2019-11-28

Review 8.  Epidemiology of Mucopolysaccharidoses Update.

Authors:  Betul Çelik; Saori C Tomatsu; Shunji Tomatsu; Shaukat A Khan
Journal:  Diagnostics (Basel)       Date:  2021-02-10

9.  Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Authors:  Sandra D K Kingma; Berten Ceulemans; Sandra Kenis; An I Jonckheere
Journal:  JIMD Rep       Date:  2021-03-18
  9 in total

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