|1.||Ponder, Katherine P: 15 articles (12/2014 - 07/2006)|
|2.||Giugliani, Roberto: 14 articles (02/2015 - 01/2002)|
|3.||Hopwood, John J: 11 articles (01/2014 - 09/2002)|
|4.||Matte, Ursula: 10 articles (02/2015 - 05/2010)|
|5.||Brooks, Doug A: 10 articles (01/2014 - 09/2002)|
|6.||Baldo, Guilherme: 9 articles (02/2015 - 05/2010)|
|7.||Kakkis, Emil D: 9 articles (01/2013 - 05/2003)|
|8.||Dickson, Patricia I: 8 articles (09/2015 - 10/2008)|
|9.||Haskins, Mark E: 8 articles (08/2015 - 07/2006)|
|10.||Tolar, Jakub: 8 articles (09/2011 - 01/2006)|
|1.||Mucopolysaccharidosis I (Hurler Syndrome)
04/01/2009 - "We have previously demonstrated that delivery of a recombinant adeno-associated virus (rAAV) encoding human alpha-iduronidase (hIDUA) in the putamen and centrum semiovale was feasible and beneficial in a dog model of Hurler's syndrome. "
01/01/2009 - "Our goal was to evaluate the long-term safety and efficacy of recombinant human alpha-l-iduronidase (laronidase) in patients with mucopolysaccharidosis I. All 45 patients who completed a 26-week, double-blind, placebo-controlled trial of laronidase were enrolled in a 3.5-year open-label extension study. "
12/01/2002 - "Using animal models of mucopolysaccharidosis I, the efficacy of alpha-L-iduronidase replacement therapy has been evaluated and justified the initiation of human clinical trials in mucopolysaccharidosis I patients. "
12/01/2014 - "We evaluated the safety and efficacy of intrathecal delivery of AAV9 expressing α-l-iduronidase (IDUA) in a previously described feline model of mucopolysaccharidosis I (MPS I). "
01/01/2010 - "Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase)."
12/01/2010 - "Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I."
04/01/2010 - "Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients."
01/01/2013 - "Cumulatively, our results allow transition to pre-clinical studies of SB-mediated alpha-L-iduronidase expression and correction of mucopolysaccharidosis type I in animal models. "
10/01/2015 - "Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency of α-l-iduronidase (IDUA) which leads to a wide spectrum of clinical severity. "
01/01/2015 - "Mucopolysaccharidosis type I (MPS I) is a progressive disorder caused by deficiency of α-L-iduronidase (IDUA), which leads to storage of heparan and dermatan sulphate. "
|3.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/01/2012 - "Production of α-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease."
01/01/2012 - "MPS I-H is a lysosomal storage disease caused by severe α-L-iduronidase deficiency and subsequent lysosomal glycosaminoglycan (GAG) accumulation. "
09/01/2004 - "To assess the efficacy and safety in treating lysosomal storage disease, four weekly doses of approximately 1 mg of IT rhIDU were administered to MPS I-affected dogs resulting in a mean 23- and 300-fold normal levels of iduronidase in total brain and meninges, respectively. "
09/01/1995 - "Mucopolysaccharidose type I is a lysosomal storage disease caused by a deficiency in the enzyme alpha-L-iduronidase (IDUA). "
08/01/2008 - "Therefore, immune tolerance to iduronidase improved the efficacy of enzyme replacement therapy with recombinant iduronidase in canine MPS I and could potentially improve outcomes in patients with MPS I and other lysosomal storage diseases."
07/01/1984 - "Control fusions between these fibroblasts and mucolipidosis II or III cells, which are also alpha-iduronidase deficient due to an enzyme processing defect, resulted in restoration of up to 57% of normal alpha-iduronidase activity. "
01/01/1985 - "We stress the importance of culturing chorionic villi especially in the case of enzymes (alpha-L-iduronidase) or diseases (I cell disease) whose expression is unusual in fresh trophoblast tissue."
08/01/1976 - "In fibroblasts of patients with mucolipidoses II and III, both iduronate sulfatase and iduronidase activities were markedly decreased. "
|5.||Mental Retardation (Idiocy)
02/01/2006 - "Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (IDUA), leading to a severe phenotype with mental retardation and various somatic abnormalities, and making a request for PGD is understandable. "
07/01/2005 - "Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. "
10/01/2012 - "We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. "
|1.||Messenger RNA (mRNA)
|3.||Nonsense Codon (Nonsense Mutation)
|4.||DNA (Deoxyribonucleic Acid)
|8.||Heparitin Sulfate (Heparan Sulfate)
|1.||Enzyme Replacement Therapy
|2.||Hematopoietic Stem Cell Transplantation
|3.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
|5.||Transplantation (Transplant Recipients)