Literature DB >> 4282258

Beta-glucuronidase deficiency mucopolysaccharidosis.

W S Sly, F E Brot, J Glaser, P D Stahl, B A Quinton, D L Rimoin, W H McAlister.   

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Year:  1974        PMID： 4282258

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  6 in total

1.  Genetic heterogeneity within the chondroitinsulphaturias.

Authors:  B S Danes; B K Rottell; L Eviatar; J Stolzenberg
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

2.  Beta-glucuronidase deficiency in a girl with unusual clinical features.

Authors:  R A Pfeiffer; H Kresse; N Bäumer; E Sattinger
Journal:  Eur J Pediatr       Date:  1977-10-12       Impact factor: 3.183

3.  Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.

Authors:  E H Birkenmeier; M T Davisson; W G Beamer; R E Ganschow; C A Vogler; B Gwynn; K A Lyford; L M Maltais; C J Wawrzyniak
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

4.  Transplantation of human umbilical mesenchymal stem cells cures the corneal defects of mucopolysaccharidosis VII mice.

Authors:  Vivien Jane Coulson-Thomas; Bruce Caterson; Winston W-Y Kao
Journal:  Stem Cells       Date:  2013-10       Impact factor: 6.277

5.  THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes.

Authors:  Dhananjay Yellajoshyula; Samuel S Pappas; Abigail E Rogers; Biswa Choudhury; Xylena Reed; Jinhui Ding; Mark R Cookson; Vikram G Shakkottai; Roman J Giger; William T Dauer
Journal:  Proc Natl Acad Sci U S A       Date:  2021-08-03       Impact factor: 11.205

6.  Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.

Authors:  Brittney L Gurda; Adrien De Guilhem De Lataillade; Peter Bell; Yanqing Zhu; Hongwei Yu; Ping Wang; Jessica Bagel; Charles H Vite; Tracey Sikora; Christian Hinderer; Roberto Calcedo; Alexander D Yox; Richard A Steet; Therese Ruane; Patricia O'Donnell; Guangping Gao; James M Wilson; Margret Casal; Katherine P Ponder; Mark E Haskins
Journal:  Mol Ther       Date:  2015-10-08       Impact factor: 11.454
  6 in total

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