Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse

[1]  P. Meikle,et al.  Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. , 2004, Molecular genetics and metabolism.

[2]  Joseph Muenzer,et al.  Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). , 2004, The Journal of pediatrics.

[3]  M. Haskins,et al.  Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. , 2004, Molecular genetics and metabolism.

[4]  M. Lessard,et al.  Electrocardiographic and other cardiac anomalies in beta-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[5]  W. Sly,et al.  Murine mucopolysaccharidosis type VII: The impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease , 1998, Journal of Inherited Metabolic Disease.

[6]  P. Meikle,et al.  Lysosomal storage disorders: emerging therapeutic options require early diagnosis , 2003, European Journal of Pediatrics.

[7]  P. Mabe,et al.  Serum hexosaminidase and beta-glucuronidase activities in infants: effects of age and sex. , 2003, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

[8]  G. Aguirre,et al.  Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[9]  F. Wolber,et al.  Roles of spleen and liver in development of the murine hematopoietic system. , 2002, Experimental hematology.

[10]  M. Sands,et al.  Inner ear pathology in the mucopolysaccharidosis VII mouse , 2002, Hearing Research.

[11]  C. Vogler,et al.  In utero fetal liver cell transplantation without toxic irradiation alleviates lysosomal storage in mice with mucopolysaccharidosis type VII. , 2001, Blood cells, molecules & diseases.

[12]  M. Sands,et al.  Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer , 2001, Gene Therapy.

[13]  W. Sly,et al.  Murine Mucopolysaccharidosis VII: Impact of Therapies on the Phenotype, Clinical Course, and Pathology in a Model of a Lysosomal Storage Disease , 2001, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[14]  W. Sly,et al.  Nonablative neonatal marrow transplantation attenuates functional and physical defects of beta-glucuronidase deficiency. , 2001, Blood.

[15]  W. Sly,et al.  A Novel Model of Murine Mucopolysaccharidosis Type VII due to an Intracisternal A Particle Element Transposition into the β-Glucuronidase Gene: Clinical and Pathologic Findings , 2001, Pediatric Research.

[16]  J. Belmont,et al.  Enzyme-replacement therapy in mucopolysaccharidosis I. , 2001, The New England journal of medicine.

[17]  M. Sands,et al.  Retinal function is improved in a murine model of a lysosomal storage disease following bone marrow transplantation. , 2000, Experimental eye research.

[18]  M. Casal,et al.  Mucopolysaccharidosis Type VII in the Developing Mouse Fetus , 2000, Pediatric Research.

[19]  W. Krivit,et al.  Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. , 1999, Current opinion in hematology.

[20]  W. Sly,et al.  Enzyme Replacement in Murine Mucopolysaccharidosis Type VII: Neuronal and Glial Response to β-Glucuronidase Requires Early Initiation of Enzyme Replacement Therapy , 1999, Pediatric Research.

[21]  W. Sly,et al.  Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function. , 1998, The Journal of clinical investigation.

[22]  W. Sly,et al.  Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. , 1997, The Journal of clinical investigation.

[23]  Michael P. McDonald,et al.  Mice lacking both subunits of lysosomal β–hexosaminidase display gangliosidosis and mucopolysaccharidosis , 1996, Nature Genetics.

[24]  W. Sly,et al.  Neuropathology of murine mucopolysaccharidosis type VII , 1996, Acta Neuropathologica.

[25]  P. Chang,et al.  Behavioural abnormalities in a murine model of a human lysosomal storage disease. , 1993, Neuroreport.

[26]  W. Sly,et al.  Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation. , 1991, Blood.

[27]  W. Sly,et al.  A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. , 1990, The American journal of pathology.

[28]  M. Davisson,et al.  Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. , 1989, The Journal of clinical investigation.

[29]  J. C. Martin,et al.  Intracellular localization of beta-glucuronidase in fibroblasts after direct transfer from macrophages. , 1988, The Biochemical journal.