Literature DB >> 4265197

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.

W S Sly, B A Quinton, W H McAlister, D L Rimoin.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1973        PMID： 4265197     DOI： 10.1016/s0022-3476(73)80162-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  137 in total

Review 1.  Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier.

Authors:  William S Sly; Carole Vogler
Journal:  Proc Natl Acad Sci U S A       Date:  2002-04-30       Impact factor: 11.205

2.  VEGF increases engraftment of bone marrow-derived endothelial progenitor cells (EPCs) into vasculature of newborn murine recipients.

Authors:  Pampee P Young; A Alex Hofling; Mark S Sands
Journal:  Proc Natl Acad Sci U S A       Date:  2002-08-23       Impact factor: 11.205

3.  A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.

Authors:  Elisabeth Walter-Nicolet; Thameur Rakza; Laurent Storme; Catherine Vaillant; Eric Magnenant; Robin Cremer; Caroline Thumerelle; Dries Dobbelaere
Journal:  Eur J Pediatr       Date:  2003-05-14       Impact factor: 3.183

Review 4.  The role of beta-glucuronidase in drug disposition and drug targeting in humans.

Authors:  B Sperker; J T Backman; H K Kroemer
Journal:  Clin Pharmacokinet       Date:  1997-07       Impact factor: 6.447

5.  Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs.

Authors:  Sun H Peck; Philip J M O'Donnell; Jennifer L Kang; Neil R Malhotra; George R Dodge; Maurizio Pacifici; Eileen M Shore; Mark E Haskins; Lachlan J Smith
Journal:  Mol Genet Metab       Date:  2015-09-26       Impact factor: 4.797

6.  Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs.

Authors:  Katherine Parker Ponder; John R Melniczek; Lingfei Xu; Margaret A Weil; Thomas M O'Malley; Patricia A O'Donnell; Van W Knox; Gustavo D Aguirre; Hamutal Mazrier; N Matthew Ellinwood; Meg Sleeper; Albert M Maguire; Susan W Volk; Robert L Mango; Jean Zweigle; John H Wolfe; Mark E Haskins
Journal:  Proc Natl Acad Sci U S A       Date:  2002-09-13       Impact factor: 11.205

7.  Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.

Authors:  J M Shipley; M Klinkenberg; B M Wu; D R Bachinsky; J H Grubb; W S Sly
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

Review 8.  Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease.

Authors:  C Vogler; M S Sands; N Galvin; B Levy; C Thorpe; J Barker; W S Sly
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

9.  Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer.

Authors:  T Li; B L Davidson
Journal:  Proc Natl Acad Sci U S A       Date:  1995-08-15       Impact factor: 11.205

Review 10.  Gene therapy for lysosomal storage diseases (LSDs) in large animal models.

Authors:  Mark Haskins
Journal:  ILAR J       Date:  2009
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.