|1.||Mucopolysaccharidosis I (Hurler Syndrome)
|2.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
|4.||Mucopolysaccharidosis II (Hunter Syndrome)
|5.||Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
|1.||Ponder, Katherine P: 15 articles (12/2014 - 07/2006)|
|2.||Tolar, Jakub: 11 articles (03/2015 - 01/2006)|
|3.||Hopwood, John J: 10 articles (01/2006 - 09/2002)|
|4.||Orchard, Paul J: 9 articles (09/2015 - 04/2006)|
|5.||Giugliani, Roberto: 9 articles (05/2013 - 01/2002)|
|6.||Kakkis, Emil D: 9 articles (01/2013 - 05/2002)|
|7.||Brooks, Doug A: 8 articles (01/2006 - 09/2002)|
|8.||Haskins, Mark E: 7 articles (12/2014 - 07/2006)|
|9.||Dickson, Patricia I: 7 articles (01/2013 - 10/2008)|
|10.||Ma, Xiucui: 7 articles (02/2010 - 07/2006)|
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)."
|2.||Growth Hormone (Somatotropin)IBA
09/01/2009 - "The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with Hurler syndrome who were treated at our institution with GH for short stature or GH deficiency between 2005 and 2008. "
09/01/2014 - "Growth hormone treatment in a patient with Hurler-Scheie syndrome."
09/01/2009 - "Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation."
11/01/2011 - "Mucopolysaccharidosis is genetically determined disease caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. "
12/01/2008 - "Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I."
03/01/1991 - "In the last decade bone marrow transplantation became available; this may have beneficial effects in selected cases, especially in mucopolysaccharidosis I. Since the genes of several lysosomal enzymes have been identified, many efforts to introduce the normal gene into the affected cells were done. "
12/01/2008 - "This newly developed tandem mass spectrometry assay has the potential to be adopted for newborn screening of mucopolysaccharidosis I. This assay has advantages over a previously reported assay also developed in this laboratory and has the potential to be performed in a multiplex fashion to measure several lysosomal enzymes relevant to treatable lysosomal storage diseases."
07/01/1974 - "Activity of some lysosomal enzymes in Hurler's syndrome (type i mucopolysaccharidosis)."
|4.||Messenger RNA (mRNA)IBA
04/05/1992 - "mRNA deficiency in mucopolysaccharidosis I dog."
01/01/2012 - "Towards developing a plant-based enzyme replacement therapeutic for the lysosomal storage disease mucopolysaccharidosis I, here we expressed α-L-iduronidase in the endosperm of maize seeds by a previously uncharacterized mRNA-targeting-based mechanism. "
01/01/1991 - "4-Trifluoromethylumbelliferyl-alpha-L-iduronide was very effective in express detection of alpha-L-iduronidase deficiency immediately in tissue slices as well as in placenta which is of importance in prenatal diagnosis of Hurler disease."
01/01/1991 - "It was found that 4-trifluoromethylumbelliferyl-alpha-L-iduronide is highly efficient for the rapid detection of alpha-L-iduronidase deficiency directly in pieces of tissues and in placenta, which is important for the prenatal diagnosis of Hurler disease."
01/01/1991 - "Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease."
01/01/1991 - "4-Trifluoromethylumbelliferyl-alpha-L-iduronide proved to be also a specific substrate of alpha-L-iduronidase and enabled to detect the enzyme deficiency in patients with Hurler disease as well as a decrease of the enzymatic activity in heterozygous carriers of the disease. "
01/01/1991 - "It was shown that 4-trifluoromethylumbelliferyl-alpha-L-iduronide, along with the commonly used 4-methylumbelliferyl-alpha-L-iduronide, can serve as a specific substrate for alpha-L-iduronidase and is therefore suitable for demonstrating the enzyme deficiency in patients with Hurler disease, as well as the decrease of enzyme activity in heterozygous disease carriers. "
01/01/2014 - "The first line-screening test for mucopolysaccharidosis is based on measurement of urinary glycosaminoglycans. "
09/01/2013 - "Mucopolysaccharide excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnosis of Hurler's syndrome. "
09/01/2010 - "Hurler Syndrome is associated with a deficiency of a specific lysosomal enzyme involved in the degradation of glycosaminoglycans. "
03/01/2006 - "Mucopolysaccharides excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnosis of Hurler syndrome. "
10/01/2003 - "The Hurler syndrome, an autosomal recessive storage disease of childhood, leads to death within the first decade of life from progressive deposition of glycosaminoglycans within the myointima of the coronary arteries and airways. "
|7.||Proteins (Proteins, Gene)IBA
08/20/1996 - "Results from this study in a canine model of mucopolysaccharidosis I underscore the fact that immunologic reactions to cells producing desirable, normal, but foreign, proteins may be as much an impediment to gene therapy as reactions to the viral vectors used to introduce the foreign gene."
11/01/2011 - "We tested the in vitro properties of fluorescent-labeled recombinant human alpha-l-iduronidase (rhIDU, the enzyme deficient in Hurler syndrome) and compared labeled to unlabeled proteins. "
07/01/2008 - "Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice."
11/01/2008 - "A variety of HIRMAb fusion proteins were engineered aiming at the development of therapeutics for the central nervous system (CNS), i.e., stroke and Parkinson's disease, as in the case of HIRMAb-BDNF and HIRMAb-GDNF, respectively, HIRMAb-IDUA for the treatment of Hurler's disease, HIRMAb-A beta single chain antibody for passive immunotherapy of Alzheimer's disease, and HIRMAb-avidin as delivery system for biotinylated drugs, like siRNAs. "
08/01/1999 - "The brains of patients with Hurler's syndrome (MPS I: n = 5) and Sanfilippo's syndrome (MPS III; n = 4) as well as from caprine MPS IIID and murine MPS VII models were evaluated by thioflavine-S staining and by immunohistochemistry using antibodies directed against heparan sulfate proteoglycans, hyperphosphorylated tau, amyloid-beta peptide precursor proteins (APP), and amyloid-beta peptides (A beta [1-40], and A beta [1-42]). "
|8.||Terminator Codon (Termination Codon)IBA
04/30/2004 - "In an MPS I patient study, premature TGA stop codons were associated with a slightly attenuated clinical phenotype, when compared to classical Hurler syndrome (e.g. "
01/01/1994 - "A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH)."
01/01/2013 - "A previously published study demonstrated an immunosuppressive regimen which successfully induced immune tolerance to α-L-iduronidase in canines with mucopolysaccharidosis I. The two key requirements for success were high-affinity receptor-mediated enzyme uptake, conferred by mannose 6-phosphate conjugation, and immunosuppression with low-dose antigen exposure. "
01/01/1982 - "Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. "
|10.||Ascorbic Acid (Vitamin C)FDA LinkGeneric
|1.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
01/08/1997 - "Allogeneic bone marrow transplantation is the most effective treatment for Hurler's syndrome. "
03/05/1996 - "Allogeneic bone marrow transplantation is the most effective treatment for Hurler syndrome but, since this therapy is not available to all patients, we have considered an alternative approach based on transfer and expression of the normal gene in autologous bone marrow. "
11/01/1997 - "Even though histocompatible bone marrow transplantation has been applied for the treatment of Hurler syndrome, gene therapy via autologous bone marrow transplantation (BMT) may be more beneficial for this disease. "
06/01/1996 - "Long-term survival and improved neuropsychological function have occurred in selected children with Hurler syndrome (MPS I H) after successful engraftment with genotypically matched sibling bone marrow transplantation (BMT). "
01/01/2010 - "Bone marrow transplantation (BMT) is effective in improving some of the clinical manifestations of Hurler syndrome. "
|2.||Enzyme Replacement Therapy
01/01/2011 - "Mucopolysaccharidosis I (MPS I) was diagnosed and prompted the onset of enzyme replacement therapy (ERT), which significantly improved articular complaints, while cardiac pathology remained stable. "
07/01/2013 - "Enzyme replacement therapy is widely used as treatment for mucopolysaccharidosis I (MPS I), and there is evidence that this produces improvement in certain clinical domains. "
08/01/2008 - "Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I."
08/01/1996 - "Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I."
02/01/2014 - "High-dose enzyme replacement therapy in murine Hurler syndrome."
|3.||Stem Cell Transplantation
06/01/2003 - "In our experience, haematopoietic stem cell transplantation using an HLA-matched familial donor or an HLA-matched or -mismatched unrelated donor without T cell depletion or irradiation can achieve a favourable outcome in Hurler's syndrome, with improved cognitive function, but with a limited effect on the corneas and skeleton."
04/01/2012 - "We assume that technical improvements such as standardised use of the laryngeal mask airway or attached tube channel videolaryngoscopes as well as a stem cell transplantation treatment of the disease helped the management of older children with mucopolysaccharidosis 1."
12/01/2009 - "As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). "
07/01/2009 - "Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome."
05/01/2008 - "The clinical outcome of Hurler syndrome after stem cell transplantation."
|4.||Transplantation (Transplant Recipients)
01/01/2015 - "In this descriptive study of children with Hurler syndrome, unrelated umbilical cord blood transplantation was associated with improved somatic disease and neurodevelopment."
05/06/2004 - "Transplantation improved neurocognitive performance and decreased somatic features of Hurler's syndrome. "
08/01/2007 - "The purpose of this study was to describe the temporal and spatial gait parameters of children with Hurler syndrome following umbilical cord blood transplantation (UCBT) in reference to gait parameters of children with typical development. "
01/01/2015 - "Only patients with Hurler syndrome who underwent umbilical cord blood transplantation between December 1995 and March 2006 (n = 25) and who were followed for at least 5 years (n = 19) were included in the analysis. "
01/01/2015 - "This prospective study evaluated the long-term outcomes of patients with Hurler syndrome who underwent umbilical cord blood transplantation from unrelated donors. "
04/01/1996 - "To our knowledge, this is the first ultrastructural study of the cornea from a bone marrow-transplant patient with Hurler syndrome. "
09/01/2013 - "Indications for transplant included Hurler syndrome, ALD, and MLD. "
02/01/2013 - "Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome."
01/01/2013 - "Fatal and unanticipated cardiorespiratory disease in a two-year-old child with hurler syndrome following successful stem cell transplant."
01/01/2012 - "Among subjects with MPS I (n = 68), 42 of the 43 patients with MPS I subtype Hurler's disease had undergone a bone marrow transplant. "