mucopolysaccharidosis i

Summary

Summary: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.

Top Publications

  1. ncbi Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    James E Wraith
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 144:581-8. 2004
  2. ncbi Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
    Lorne A Clarke
    University of British Columbia, Department of Medical Genetics, Vancouver, British Columbia, Canada
    Pediatrics 123:229-40. 2009
  3. ncbi Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans
    Minke H de Ru
    Department of Pediatrics, Amsterdam Lysosome Centre Sphinx, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 36:247-55. 2013
  4. pmc Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
    Dan Wang
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Mol Genet Metab 99:62-71. 2010
  5. ncbi Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families
    S Laradi
    Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    J Inherit Metab Dis 28:1019-26. 2005
  6. ncbi Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations
    N Venturi
    Centro Ricerca Fondazione M Tettamanti and BMT Unit, Universita di Milano Bicocca, Ospedale San Gerardo, Monza, Italy
    Hum Mutat 20:231. 2002
  7. ncbi Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
    Nancy J Terlato
    Department of Medical Affairs, Genzyme Corporation, One Kendall Square, Cambridge, MA 02139, USA
    Genet Med 5:286-94. 2003
  8. ncbi The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
    Gregory M Pastores
    NYU School of Medicine, New York, NY 10016, USA
    Mol Genet Metab 91:37-47. 2007
  9. ncbi Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)
    J Edmond Wraith
    Royal Manchester Children s Hospital, Willink Biochemical Genetics Unit, Hospital Road, Pendlebury, Manchester M27 1HA, United Kingdom
    Pediatrics 120:e37-46. 2007
  10. pmc Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review
    Marleen H van der Linden
    Department of Orthopaedics, University Medical Center Utrecht, HP G 05 228, Postbus 85500, 3508 GA Utrecht, The Netherlands
    J Inherit Metab Dis 34:657-69. 2011

Detail Information

Publications194 found, 100 shown here

  1. ncbi Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
    James E Wraith
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, United Kingdom
    J Pediatr 144:581-8. 2004
    To confirm the efficacy and safety of recombinant human alpha-L-iduronidase (laronidase) in patients with mucopolysaccharidosis I (MPS I).
  2. ncbi Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
    Lorne A Clarke
    University of British Columbia, Department of Medical Genetics, Vancouver, British Columbia, Canada
    Pediatrics 123:229-40. 2009
    Our goal was to evaluate the long-term safety and efficacy of recombinant human alpha-l-iduronidase (laronidase) in patients with mucopolysaccharidosis I.
  3. ncbi Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans
    Minke H de Ru
    Department of Pediatrics, Amsterdam Lysosome Centre Sphinx, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 36:247-55. 2013
    ..We studied the concentrations of heparan sulfate and dermatan sulfate derived disaccharides (HS and DS, respectively) in the plasma and urine of seven patients and compared these levels with total urinary GAGs (uGAGs) levels...
  4. pmc Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
    Dan Wang
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Mol Genet Metab 99:62-71. 2010
    ..This new mouse will provide an important tool to investigate therapeutic approaches for MPS I-H that cannot be addressed using current MPS I-H animal models...
  5. ncbi Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families
    S Laradi
    Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    J Inherit Metab Dis 28:1019-26. 2005
    ..The identification of these mutations and their genotype-phenotype correlations should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists...
  6. ncbi Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations
    N Venturi
    Centro Ricerca Fondazione M Tettamanti and BMT Unit, Universita di Milano Bicocca, Ospedale San Gerardo, Monza, Italy
    Hum Mutat 20:231. 2002
    ..In most cases the patients' genotypes were unique combinations of mutations. The great heterogeneity found in our MPS-I population hampers mutation detection and hinders the genotype-phenotype correlation...
  7. ncbi Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
    Nancy J Terlato
    Department of Medical Affairs, Genzyme Corporation, One Kendall Square, Cambridge, MA 02139, USA
    Genet Med 5:286-94. 2003
    ..This review also confirms that MPS I allele frequencies vary between different ethnic populations, and that W402X and Q70X are the most common mutations and are present in over 50% of Caucasian alleles...
  8. ncbi The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
    Gregory M Pastores
    NYU School of Medicine, New York, NY 10016, USA
    Mol Genet Metab 91:37-47. 2007
    ....
  9. ncbi Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)
    J Edmond Wraith
    Royal Manchester Children s Hospital, Willink Biochemical Genetics Unit, Hospital Road, Pendlebury, Manchester M27 1HA, United Kingdom
    Pediatrics 120:e37-46. 2007
    Our objective was to evaluate the safety, pharmacokinetics, and efficacy of laronidase in young, severely affected children with mucopolysaccharidosis I.
  10. pmc Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review
    Marleen H van der Linden
    Department of Orthopaedics, University Medical Center Utrecht, HP G 05 228, Postbus 85500, 3508 GA Utrecht, The Netherlands
    J Inherit Metab Dis 34:657-69. 2011
    ..In order to facilitate evidence based management, the aim of the current study was to give a systematic overview of the orthopaedic complications and motor functioning of Hurler's patients after HSCT...
  11. pmc Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry
    Kristin D'Aco
    Section of Metabolic Diseases, Children s Hospital of Philadelphia, 3501 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Eur J Pediatr 171:911-9. 2012
    Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time...
  12. ncbi Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II
    Raymond Y Wang
    Division of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children s, Orange, CA 92868, USA
    Mol Genet Metab 98:406-11. 2009
    ..Characteristic brain imaging abnormalities are seen in MPS patients. This study aims to determine the effects of hematopoietic stem cell transplantation (HSCT) and/or intravenous enzyme replacement therapy (ERT) on these abnormalities...
  13. pmc Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase
    Rebecca J Holley
    Stem Cell Glycobiology, School of Materials, The University of Manchester, M13 9PL Manchester, UK
    J Biol Chem 286:37515-24. 2011
    ..This mechanism may have severe implications during disease progression but, now identified, could help direct improved therapeutic strategies...
  14. ncbi Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations
    Igor Nudelman
    The Edith and Joseph Fischer Enzyme Inhibitors Laboratory, Technion Israel Institute of Technology, Haifa 32000, Israel
    Bioorg Med Chem 18:3735-46. 2010
    ..The superiority of new leads was demonstrated in six different nonsense DNA-constructs underling the genetic diseases cystic fibrosis, Duchenne muscular dystrophy, Usher syndrome and Hurler syndrome...
  15. pmc The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse
    Dan Wang
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Mol Genet Metab 105:116-25. 2012
    ..Together, these results suggest that NB84-mediated suppression therapy has the potential to attenuate the MPS I-H disease phenotype...
  16. pmc Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
    Janet A Thomas
    University of Colorado, Denver, CO, USA
    J Inherit Metab Dis 33:421-7. 2010
    ..Given the availability of etiologic treatment, prompt diagnosis is important...
  17. ncbi Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms
    Khalda Amr
    Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt
    Genet Test Mol Biomarkers 13:761-4. 2009
    ..This is the first report of IDUA mutations in Egyptian patients with MPS I. Our study showed a heterogeneous pattern of mutations and polymorphisms among Egyptian patients...
  18. ncbi Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients
    Anna Tylki-Szymanska
    Department of Metabolic Diseases, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04730 Warsaw, Poland
    J Inherit Metab Dis 33:151-7. 2010
    ....
  19. ncbi Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice
    Kia Langford-Smith
    MPS Stem Cell Research Group, Faculty of Medical and Human Sciences, University of Manchester, 3 721 Stopford Building, Manchester M13 9PT, UK
    Mol Genet Metab 99:269-74. 2010
    ..With careful sample preparation, HCII-T ELISA could prove to be a useful biomarker for both newborn screening and measurement of treatment outcomes in selected MPS diseases...
  20. ncbi Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT)
    Gunilla Malm
    Department of Clinical Science, Intervention and Technology, Division of Paediatrics, Karolinska Institutet, Huddinge, Sweden
    Acta Paediatr 97:1108-12. 2008
    ..To follow-up six children with severe mucopolysaccharidosis type IH, Hurler syndrome, who were treated before 24 months of age with haematopoietic stem cell transplantation...
  21. pmc Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation
    L E Polgreen
    Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA
    Bone Marrow Transplant 44:279-85. 2009
    ..One patient discontinued GH due to slipped capital femoral epiphysis. Preliminary data suggest that 1-year GH treatment may modestly improve growth velocity in children with Hurler syndrome...
  22. ncbi Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders
    A E Van Heest
    Department of Orthopaedic Surgery, University of Minnesota, Minneapolis 55455, USA
    J Hand Surg Am 23:236-43. 1998
    ..Early surgical intervention for nerve compression and stenosing flexor tenosynovitis can maximize hand function in these children...
  23. ncbi Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene
    S Bunge
    Institut fur Humangenetik, Medizinische Universitat, Lubeck, Germany
    Hum Mutat 6:91-4. 1995
  24. ncbi Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
    A Yamagishi
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 7:23-9. 1996
    ..These data continue to document the molecular heterogeneity and racial differences in mutations in MPS-I...
  25. ncbi Mucopolysaccharidosis I: management and treatment guidelines
    Joseph Muenzer
    Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA
    Pediatrics 123:19-29. 2009
    ..The availability of hematopoietic stem cell transplantation and the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I necessitate the establishment of system-specific management guidelines for this condition.
  26. ncbi Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
    G Souillet
    Department of Paediatric Immuno Hematology and Bone Marrow Transplantation, Debrousse Hospital, Lyon, France
    Bone Marrow Transplant 31:1105-17. 2003
    ....
  27. ncbi Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy report
    H Y Lin
    Department of Pediatrics, Mackay Memorial Hospital, No 92, Sec 2, Chung Shan North Road, Taipei 10449, Taiwan
    J Inherit Metab Dis 28:1146-8. 2005
    ..We describe the first autopsy report of a young male MPS I patient who died of infection-induced cardiopulmonary failure following 2 years of weekly treatment with laronidase...
  28. ncbi Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I
    Suresh Vijay
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester M27 4HA, UK
    Acta Paediatr 94:872-7. 2005
    ..To review the heterogeneity and severity of the clinical features at the attenuated end of the mucopolysaccharidosis (MPS) type I disease spectrum...
  29. ncbi Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up
    Orazio Gabrielli
    Institute of Maternal Infantile Sciences, Polytechnic University of Marche, Ancona, Italy
    Pediatrics 125:e183-7. 2010
    ..We suggest that early treatment of attenuated MPS I may significantly delay or prevent the onset of the major clinical signs, substantially modifying the natural history of the disease...
  30. ncbi alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
    H S Scott
    Department of Chemical Pathology, Adelaide Children s Hospital, S A
    Hum Mutat 1:333-9. 1992
    ..We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes...
  31. pmc Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
    Minke H de Ru
    Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:55. 2011
    ..A European consensus procedure was organized to reach consensus about the use of these two treatment strategies...
  32. ncbi Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients
    Robert F Wynn
    Blood and Marrow Transplant Unit, Royal Manchester Children s Hospital, Manchester, UK
    J Pediatr 154:135-9. 2009
    ..The survival and engraftment rate was 89% overall and 93% for the 15 patients who received full-intensity conditioning...
  33. ncbi Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry
    Pamela Arn
    Department of Pediatrics, The Nemours Children s Clinic, Jacksonville, FL 32207, USA
    J Pediatr 154:859-64.e3. 2009
    To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database.
  34. pmc Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI
    M M Sleeper
    Section of Cardiology, Department of Clinical Studies, University of Pennsylvania School of Veterinary Medicine, Philadelphia, PA, USA
    J Inherit Metab Dis 31:424-31. 2008
    ..The purpose of this study was to define the cardiovascular abnormalities present in young and adult cats affected with the lysosomal storage diseases mucopolysaccharidosis (MPS) I and MPS VI...
  35. ncbi Pre-transplant risk factors affecting outcome in Hurler syndrome
    P J Orchard
    Program in Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA
    Bone Marrow Transplant 45:1239-46. 2010
    ..Overall, 31% of these patients were intubated. The risk of intubation was higher in older patients and in those with a history of lower airway disease. These findings have implications for the care of patients with high-risk features...
  36. pmc Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells
    Chendong Pan
    Associate Professor of Medicine, University of Minnesota Medical School, Hematology Oncology Section 111E, VA Medical Center, One Veterans Dr, Minneapolis, MN 55417
    Blood 106:1956-64. 2005
    ..Similar mechanisms may operate in the pathogenesis of other diseases where structurally abnormal GAGs accumulate...
  37. pmc Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
    C Ronald Scott
    Department of Pediatrics, University of Washington, Seattle, WA 98195 6320, USA
    J Pediatr 163:498-503. 2013
    ....
  38. ncbi Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I
    Revecca Kakavanos
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Lancet 361:1608-13. 2003
    Enzyme-replacement therapy has been assessed as a treatment for patients who have mucopolysaccharidosis I (alpha-L-iduronidase deficiency)...
  39. pmc Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I
    Patricia I Dickson
    Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor UCLA, Torrance, CA 90502, USA
    Mol Genet Metab 106:68-72. 2012
    ..The effect was measurable one month after each dose and did not differ with antibody titer. Prevention of the immune response to enzyme may improve the efficacy of intrathecal enzyme replacement therapy for brain disease due to MPS I...
  40. ncbi Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome
    Lorenz Grigull
    Department of Paediatric IV Haematology and Oncology, Anna Stift, Berufs Bildungswerk, Medical University Hannover, Hannover, Germany
    Pediatr Transplant 15:861-9. 2011
    ..Patients with Hurler syndrome need specialized follow-up care because of their manifold health problems. The standardized follow-up presented here is a step to optimize care for MPS children and their families after SCT...
  41. ncbi Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients
    Patricia I Dickson
    Los Angeles Biomedical Research Institute at Harbor UCLA Medical Center, Torrance, CA 90502, USA
    Curr Pharm Biotechnol 12:946-55. 2011
    ....
  42. ncbi Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
    X Wang
    Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China
    Clin Genet 81:443-52. 2012
    b>Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease that results from the deficiency of α-l-iduronidase and is transmitted in an autosomally recessive manner...
  43. ncbi Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice
    Guilherme Baldo
    Centro de Terapia Gênica, Hospital de Clinicas de Porto Alegre, RS, Brazil
    Mol Genet Metab 109:33-40. 2013
    ....
  44. ncbi Cord-blood transplants from unrelated donors in patients with Hurler's syndrome
    Susan L Staba
    Pediatric Stem Cell Transplant Program, Duke University Medical Center, Durham, NC 27710, USA
    N Engl J Med 350:1960-9. 2004
    ..We investigated the feasibility of using cord-blood transplants from unrelated donors and a myeloablative preparative regimen that did not involve total-body irradiation in young children with Hurler's syndrome...
  45. ncbi Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I)
    Gregory M Pastores
    Neurogenetics Unit, Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Curr Opin Rheumatol 17:70-8. 2005
    ..This review focuses on two disease groups: glycosphingolipidoses and mucopolysaccharidoses. Specifically, Gaucher disease and Hurler-Scheie syndrome have been selected as the prototypical disorder for each respective class...
  46. ncbi Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model
    M Camassola
    Genetics Department, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501 900, Porto Alegre, RS, Brasil
    J Inherit Metab Dis 28:1035-43. 2005
    b>Mucopolysaccharidosis I (MPS I) is a lysosomal disorder characterized by a deficiency of the enzyme alpha-L: -iduronidase (IDUA), which is responsible for the degradation of glycosaminoglycans (GAGs)...
  47. pmc Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice
    Ramin Sedaghat Herati
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    J Gene Med 10:972-82. 2008
    b>Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to alpha-L-iduronidase (IDUA) deficiency that results in the accumulation of glycosaminoglycans (GAG)...
  48. ncbi Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
    Raquel Boy
    Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, CEP 90035 003, Porto Alegre, RS, Brazil
    J Med Ethics 37:233-9. 2011
    ..This study aims to present a demographic profile of Brazilian patients with MPS I, describe the routes of access to laronidase in Brazil, and discuss associated ethical issues relating to public funding of orphan drugs...
  49. ncbi Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, St Louis, MO 63104, USA
    J Inherit Metab Dis 33:141-50. 2010
    b>Mucopolysaccharidosis I (MPS I) is an autosomal recessive disorder caused by deficiency of alpha-L-iduronidase leading to accumulation of its catabolic substrates, dermatan sulfate (DS) and heparan sulfate (HS), in lysosomes...
  50. pmc Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients
    L J Ashton
    Department of Chemical Pathology, Adelaide Children s Hospital, North Adelaide, Australia
    Am J Hum Genet 50:787-94. 1992
    ..Enzyme kinetic analysis of alpha-L-iduronidase from MPS I fibroblasts revealed a number of patients with either abnormal substrate binding or catalytic activity.(ABSTRACT TRUNCATED AT 250 WORDS)..
  51. ncbi High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry
    Pamela Arn
    The Nemours Children s Clinic, Jacksonville, FL 32207, USA
    J Pediatr Surg 47:477-84. 2012
    b>Mucopolysaccharidosis I (MPS I) is a rare lysosomal storage disorder caused by deficiency of α-L-iduronidase, which results in progressive multisystemic disease...
  52. ncbi Anesthesia for an adult with mucopolysaccharidosis I
    John L Ard
    Department of Anesthesiology, New York University Medical Center, New York, NY 10016, USA
    J Clin Anesth 17:624-6. 2005
    We describe the anesthetic management difficulties of a man with mucopolysaccharidosis I. We also briefly review the anesthesia literature related to this disease.
  53. ncbi Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I
    Haruhito Harada
    Division of Cardiology, Kurume University Medical Center, Japan
    Mol Genet Metab 103:215-9. 2011
    ..replacement therapy could improve left ventricular (LV) myocardial function in a 49-year-old woman with mucopolysaccharidosis I (MPS I) and valvular heart disease...
  54. ncbi Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation
    Vassili Valayannopoulos
    Reference Center for Inherited Metabolic Disorders, Necker Enfants Malades Hospital, 149 rue de Sevres, 75015 Paris, France
    Pediatrics 126:e1242-7. 2010
    ..He went from using a wheelchair to having full ambulation, he no longer required daytime ventilation, and his quality-of-life scores (Child Health Assessment Questionnaire) significantly improved...
  55. ncbi Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog
    L J Stoltzfus
    Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024
    J Biol Chem 267:6570-5. 1992
    alpha-L-Iduronidase is a lysosomal enzyme, the deficiency of which causes mucopolysaccharidosis I (MPS I); a canine MPS I colony has been bred to test therapeutic intervention...
  56. ncbi Gross motor development of children with hurler syndrome after umbilical cord blood transplantation
    Stacey C Dusing
    Department of Physical Therapy, School of Allied Health Professions, Virginia Commonwealth University, 1200 E Broad St, PO Box 980224, Richmond, VA 23298 0224, USA
    Phys Ther 87:1433-40. 2007
    ..The purpose of this study was to provide a description of gross motor development in children with Hurler syndrome after UCBT...
  57. ncbi Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
    K P Menon
    Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024 1737
    Genomics 14:763-8. 1992
    b>Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease caused by deficiency of alpha-L-iduronidase...
  58. ncbi Physical performance testing in mucopolysaccharidosis I: a pilot study
    Helene M Dumas
    Research Center for Children with Special Health Care Needs, Franciscan Hospital for Children, Bostan MA 02135, USA
    Pediatr Rehabil 7:125-31. 2004
    To develop and field-test a physical performance measure (MPS-PPM) for individuals with Mucopolysaccharidosis I (MPS I), a rare genetic disorder.
  59. ncbi Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome
    J Tolar
    Divisions of Hematology, Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA
    Bone Marrow Transplant 41:531-5. 2008
    ..Therefore, we recommend treatment of MPS IH patients with combination of ERT and HSCT therapy to further investigate its potential to enhance outcomes with HSCT...
  60. ncbi Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase)
    Anna Tylki-Szymanska
    Department of Metabolic Diseases, Endocrinology and Diabetology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04730 Warsaw, Poland
    Mol Genet Metab 99:10-7. 2010
    ....
  61. ncbi The clinical outcome of Hurler syndrome after stem cell transplantation
    Mieke Aldenhoven
    Department of Immunology Hematology and Stem Cell Transplantations, University Medical Center Utrecht, Utrecht, The Netherlands
    Biol Blood Marrow Transplant 14:485-98. 2008
    ..In addition, factors that are suggested to contribute to the variable outcome are outlined, as well as the limitations of SCT in HS patients...
  62. ncbi Enzyme-replacement therapy in mucopolysaccharidosis I
    E D Kakkis
    Department of Pediatrics, Harbor UCLA Medical Center, Torrance, Calif, USA
    N Engl J Med 344:182-8. 2001
    b>Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase...
  63. pmc Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression
    Jason A Metcalf
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Genet Metab 99:396-407. 2010
    b>Mucopolysaccharidosis I (MPS I) and MPS VII are due to loss-of-function mutations within the genes that encode the lysosomal enzymes alpha-l-iduronidase and beta-glucuronidase, respectively, and result in accumulation of ..
  64. pmc Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I
    Sophie Blanchard
    Department of Chemistry, University of Washington, Seattle, Washington 98195, USA
    Clin Chem 54:2067-70. 2008
    Treatments now available for mucopolysaccharidosis I require early detection for optimum therapy. Therefore, we have developed an assay appropriate for newborn screening of the activity of the relevant enzyme, alpha-L-iduronidase.
  65. ncbi Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation
    Kendra J Bjoraker
    Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA
    J Dev Behav Pediatr 27:290-6. 2006
    Advances in medical treatment have prolonged the lives of children with Hurler syndrome or mucopolysaccharidosis I requiring increased attention to the assessment of their long-term outcomes and functional abilities...
  66. ncbi Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study
    Thomas Lücke
    Pediatric Metabolic Disease Section, Children s Hospital, Hannover Medical School, Hannover, Germany
    Dev Med Child Neurol 49:693-6. 2007
    ..In all patients, after SCT a regression of intracranial lesions could be seen that paralleled the psychomotor improvements. SCT led to a relative reduction of head circumference in all cases...
  67. ncbi The molecular basis of mucopolysaccharidosis type I in two Thai patients
    James R Ketudat Cairns
    Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand
    Southeast Asian J Trop Med Public Health 36:1308-12. 2005
    ..The other patient had the previously described frameshift mutation 252insert C and a new nonsense mutation E299X (983G>T)...
  68. ncbi Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome
    J A Thomas
    Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and the Children s Hospital, Denver, Colorado, USA
    J Inherit Metab Dis 29:762. 2006
    ..Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient...
  69. ncbi Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation
    G Khanna
    Department of Orthopedic Surgery, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA
    Bone Marrow Transplant 39:331-4. 2007
    ..However, children transplanted for MPSIH remain at risk for the development of CTS, and should be monitored on an ongoing basis by nerve conduction velocity testing...
  70. pmc Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid
    Patricia Dickson
    Division of Medical Genetics, Department of Pediatrics, LA Biomed at Harbor UCLA, Torrance, CA 90502, USA
    Mol Genet Metab 91:61-8. 2007
    ..We studied IT enzyme replacement therapy with recombinant human iduronidase (rhIDU) in canine mucopolysaccharidosis I (MPS I, Hurler syndrome), a lysosomal storage disorder with brain and meningeal involvement...
  71. ncbi A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I
    Roberto Giugliani
    Department of Genetics UFRGS, Medical Genetics Service HCPA, Postgraduate Program in Medical Sciences, Pediatrics UFRGS, Porto Alegre, RS, Brazil
    Mol Genet Metab 96:13-9. 2009
    ..The 1.2mg/kg every 2 weeks regimen may be an acceptable alternative for patients with difficulty receiving weekly infusions, but the long-term effects of this regimen are unknown...
  72. ncbi [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families]
    L Chkioua
    Laboratoire de Biochimie, CHU Farhat Hached, 4000 Sousse, Tunisie
    Arch Pediatr 14:1183-9. 2007
    ..The aim of our study was to propose in Tunisia a strategy of molecular and prenatal diagnosis of the MPS I...
  73. ncbi Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome
    Jaap Jan Boelens
    Department of Immunology Hematology and BMT, University Medical Center Utrecht, Utrecht, The Netherlands
    Biol Blood Marrow Transplant 15:618-25. 2009
    ..Improved outcomes from early transplantation and immediate availability of CB unit lead us to conclude that CB transplantation is a beneficial option, which should be considered expediently for children with HS...
  74. pmc Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice
    Xiucui Ma
    Department of Internal Medicine, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Mol Genet Metab 94:298-304. 2008
    b>Mucopolysaccharidosis I (MPS I), known as Hurler syndrome in the severe form, is a lysosomal storage disease due to alpha-L-iduronidase (IDUA) deficiency...
  75. pmc The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK
    David Moore
    Department of Public Health and Epidemiology, University of Birmingham, Birmingham, UK
    Orphanet J Rare Dis 3:24. 2008
    ..In general such data on the natural history of lysosomal storage diseases is sparse...
  76. ncbi A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years
    Monica Sifuentes
    Department of Pediatrics, Harbor UCLA Medical Center, Torrance, CA 90502, USA
    Mol Genet Metab 90:171-80. 2007
    ..was approved as an enzyme replacement therapy for patients with the lysosomal storage disorder, mucopolysaccharidosis I (MPS I)...
  77. ncbi Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    Ding Wang
    Department of Chemistry, University of Washington, Seattle, WA 98195, USA
    Clin Chem 51:898-900. 2005
  78. ncbi Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
    G Yogalingam
    Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women s and Children s Hospital, North Adelaide, Australia
    Hum Mutat 24:199-207. 2004
    ..Finally, residual IDUA protein concentration in cultured fibroblasts showed a weak correlation to the degree of immune response to enzyme-replacement therapy in each patient...
  79. ncbi Laronidase treatment of mucopolysaccharidosis I
    Ed J Wraith
    Willink Biochemical Genetics Unit, Royal Manchester Children s Hospital, Manchester, UK
    BioDrugs 19:1-7. 2005
    ....
  80. ncbi Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice
    Yuli Liu
    Department of Internal Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Ther 11:35-47. 2005
    b>Mucopolysaccharidosis I (MPS I) due to deficient alpha-L-iduronidase (IDUA) activity results in accumulation of glycosaminoglycans in many cells...
  81. ncbi Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene
    L A Clarke
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Hum Mol Genet 6:503-11. 1997
    ..This model should permit detailed evaluation of the pathophysiology of lysosomal storage disorders and provide a small animal model for the testing and development of enzyme replacement and gene therapy regimes...
  82. ncbi Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    S Bunge
    Institut fur Humangenetik, Medizinische Universitat, Lubeck, Germany
    Hum Mol Genet 3:861-6. 1994
    ..5 times more frequent (48%) than Q70X (19%). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs...
  83. ncbi Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity
    Guey Jen Lee-Chen
    Department of Biology, National Taiwan Normal University, 88 Ting Chow Road, Section 4, Taipei, Taiwan
    J Formos Med Assoc 101:425-8. 2002
    ..These findings provide further evidence of the molecular heterogeneity in mutations in MPS I...
  84. ncbi Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity
    G J Lee-Chen
    Department of Biology, National Taiwan Normal University, Taipei, ROC
    Clin Genet 56:66-70. 1999
    ..By examining the stability of IDUA mRNA and protein, studies provide better insight into the effect of mutation on IDUA activity...
  85. ncbi A homology model for human alpha-l-iduronidase: insights into human disease
    Brian P Rempel
    Department of Chemistry, University of British Columbia, Vancouver, BC, Canada V6T 1Z1
    Mol Genet Metab 85:28-37. 2005
    ....
  86. ncbi Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases
    William Krivit
    University of Minnesota Hospitals and Clinics, 420 Church Street, Box 477, Minneapolis, MN 55455, USA
    Springer Semin Immunopathol 26:119-32. 2004
    ..Many new therapies are being adopted which should enhance positivity and acceptance of treatment by hematopoietic stem cell transplantation...
  87. pmc Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB
    Kazuhiro Ohmi
    Department of Biological Chemistry, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 100:1902-7. 2003
    ..They show an inflammatory component of brain disease in the two MPS, as is known for many neurodegenerative disorders...
  88. ncbi Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene
    Peining Li
    Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
    Genet Med 4:420-6. 2002
    ..To facilitate studies of phenotype-genotype correlation, the authors performed molecular studies to detect mutations in MPS I patients and characterize single nucleotide polymorphism (SNP) in the gene...
  89. ncbi Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
    Ursula Matte
    Medical Genetics Service Hospital de Clínicas de Porto Alegre, Porto Alegre RS, Brazil
    Mol Genet Metab 78:37-43. 2003
    ..This was the first time that Brazilian MPS I patients had been thoroughly analyzed and highlighted the difficulties of mutation screening and clinical phenotype assessment in populations with high numbers of unique mutations...
  90. ncbi Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    C E Beesley
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Hum Genet 109:503-11. 2001
    ....
  91. ncbi Laronidase for treating mucopolysaccharidosis type I
    R P El Dib
    Centro Cochrane do Brasil, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil
    Genet Mol Res 6:667-74. 2007
    ....
  92. ncbi IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    Francesca Bertola
    Consortium for Human Molecular Genetics, Milano Bicocca University, Monza, Italy
    Hum Mutat 32:E2189-210. 2011
    ....
  93. ncbi Temporal and spatial gait characteristics of children with Hurler syndrome after umbilical cord blood transplantation
    Stacey C Dusing
    Department of Physical Therapy, School of Allied Health Professions, Virginia Commonwealth University, 1200 E Broad St, PO Box 980224, Richmond, VA 23298 0224, USA
    Phys Ther 87:978-85. 2007
    ....
  94. ncbi Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure
    J J Boelens
    Department of Immunology BMT, Wilhelmina Children s Hospital, Utrecht Medical Center, Utrecht, The Netherlands
    Bone Marrow Transplant 40:225-33. 2007
    ..CB increased the likelihood of sustained engraftment associated with normal enzyme levels and could therefore be considered as a preferential cell source in SCT for 'inborn errors of metabolism'...
  95. ncbi Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects
    N Alif
    Laboratory of Cellular and Molecular Biology, Ibnou Zohr University School of Sciences, Agadir, Morocco
    Ann Hum Genet 63:9-16. 1999
    ..These results suggest that the P533R mutation constitutes the genetic lesion which results in MPS I in people of Moroccan descent and provides yet more evidence for the uneven geographical distribution of mutations in MPS I...
  96. pmc Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
    Latifa Chkioua
    Biochemistry laboratory Farhat Hached Hospital, Street Doctor Moreau, 4000 Sousse, Tunisia
    Diagn Pathol 6:39. 2011
    ..The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case)...
  97. ncbi Effect of neonatal administration of a retroviral vector expressing alpha-L-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice
    Sarah Chung
    Department of Internal Medicine, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Mol Genet Metab 90:181-92. 2007
    b>Mucopolysaccharidosis I (MPS I) due to deficient alpha-L-iduronidase (IDUA) activity results in accumulation of glycosaminoglycans in many cells...
  98. pmc Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I
    Patricia I Dickson
    Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor UCLA Medical Center, 1124 W Carson Street, Torrance, CA 90502, USA
    Mol Genet Metab 101:115-22. 2010
    ..ERT) with intravenous recombinant human alpha-l-iduronidase (IV rhIDU) is a treatment for patients with mucopolysaccharidosis I (MPS I)...
  99. ncbi Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation
    Jason S Weisstein
    Department of Orthopaedic Surgery, University of California, San Francisco, San Francisco, California, USA
    J Pediatr Orthop 24:97-101. 2004
    ..BMT does not appear to alter the natural history of the musculoskeletal disorders in Hurler syndrome, although there may be a beneficial effect on upper extremity joint mobility...
  100. pmc Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients
    Aleksander Hinek
    Division of Cardiovascular Research, Hospital for Sick Children, Toronto, Canada
    Am J Pathol 164:119-31. 2004
    ..These results suggest that induction of elastic fiber production by gene transfer of versican V3 in skin fibroblasts is mediated by rescue of the tropoelastin chaperone, EBP...
  101. pmc Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I
    Patricia Dickson
    Division of Medical Genetics, Los Angeles Biomedical Research Institute at Harbor UCLA Medical Center, Torrance, California, USA
    J Clin Invest 118:2868-76. 2008
    ....

Research Grants24

  1. Retroviral Vector-mediated Liver Gene Therapy for MPS I
    Katherine P Ponder; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease caused by deficient a-L-iduronidase (IDUA) activity, which results in the accumulation of the glycosaminoglycans heparan and dermatan ..
  2. RECEPTOR-MEDIATED TRANSPORT OF LYSOSOMAL ENZYMES
    William S Sly; Fiscal Year: 2013
    ..The answers sought have fundamental significance and should provide information leading to novel therapeutic approaches to enzyme replacement for lysosomal and other storage diseases involving the central nervous system. ..
  3. Neuroimaging and Neuropathology of Mucopolysaccharidosis I
    Patricia I Dickson; Fiscal Year: 2013
    ..SUMMARY/ABSTRACT We propose to study the relationship of neuroimaging abnormalities and neuropathology in mucopolysaccharidosis I (MPS I), a lysosomal storage disease that strikes in infancy or childhood...
  4. The humoral immune response to recombinant enzyme in mucopolysaccharidosis I
    Patricia I Dickson; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The lysosomal storage disorder mucopolysaccharidosis I (MPS I, also called Hurler, Hurler-Scheie, or Scheie syndrome) causes devastating physical and neurological disease, usually beginning in ..
  5. Development of a Novel Biomarker for Mucopolysaccharidosis I, II, and VI
    Brett E Crawford; Fiscal Year: 2012
    ..to develop a novel biomarker for the definitive diagnosis and clinical management of patients with Mucopolysaccharidosis I, II, and VI...
  6. ENZYME AND GENE THERAPY OF MPS I IN ANIMAL MODELS
    ELIZABETH NEUFELD; Fiscal Year: 2002
    The molecular basis of Mucopolysaccharidosis I (MPS I, Hurler, Hurler/Scheie and Scheie syndromes) is mutations in the gene encoding alpha-L-iduronidase, resulting in absence of enzyme activity, accumulation of undegraded ..
  7. GENE THERAPY FOR HURLERS DISEASE
    Donald Kohn; Fiscal Year: 2001
    ..Successful tolerance induction in murine and canine models of MPS I will be an Important step toward application of gene therapy in human patients. ..
  8. Pilot/Phase I Study of Intrathecal Laronidase for Spinal Cord Compression in Muco
    Patricia Dickson; Fiscal Year: 2009
    ..If successful, delivery into the spinal fluid could represent a practical, straightforward method of treating central nervous system disease due to lysosomal storage. ..
  9. Intrathecal enzyme therapy for mucopolysaccharidosis I
    Patricia I Dickson; Fiscal Year: 2010
    b>Mucopolysaccharidosis I (MRS I) is a lysosomal storage disorder due to deficiency of the enzyme alpha-L- iduronidase...
  10. Retroviral Vector-mediated Liver Gene Therapy for MPS I
    KATHERINE PONDER; Fiscal Year: 2008
    Abstract Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease caused by deficient a-Liduronidase (IDUA) activity, which results in the accumulation of the glycosaminoglycans heparan and dermatan sulfate...
  11. Correction of Hurler syndrome by multipotent stem cells
    Pankaj Gupta; Fiscal Year: 2007
    ..If MAPC transplantation is of benefit in the Hurler model, similar strategies may be developed for treating diverse neurodegenerative disorders. ..
  12. Correction of neural abnormalities in Hurler syndrome
    Pankaj Gupta; Fiscal Year: 2003
    ....
  13. In Vivo BM Stem Cell Gene Transfer for MPS type I
    Dao Pan; Fiscal Year: 2006
    ..Taken together, these data would not only open a door to a novel approach for treatment of human diseases, but also provide a new tool to study adult stem cell plasticity and the nature of hematopoiesis. ..
  14. PRODUCTION OF BETA-GLUCURONIDASE FOR MPS VII
    Emil Kakkis; Fiscal Year: 2002
    ..PROPOSED COMMERCIAL APPLICATION: The enzyme and process created from this work can be used to produce enzyme and treat patients suffering from Mucopolysaccharidosis VII, a serious, life-threatening genetic disorder. ..
  15. MRI, MIT, and MRS of MPS VII and Krabbe Disease
    Charles Vite; Fiscal Year: 2003
    ..x0a; ..
  16. PATHOGENESIS OF DISEASE IN MUCOPOLYSACCHARIDOSIS I AND VII
    Katherine P Ponder; Fiscal Year: 2010
    b>Mucopolysaccharidosis I (MPS I) and MPS V Mucopolysaccharidosis I (MPS I) and MPS VII are lysosomal storage diseases in which glycosaminoglycans (GAG) accumulate due to deficient activity in a-Liduronidase and b-glucuronidase, ..
  17. First International Symposium on Osteopetrosis:
    Paul Orchard; Fiscal Year: 2003
    ..abstract_text> ..
  18. Computer Adaptive Testing of Post-Acute Care Functioning
    Stephen Haley; Fiscal Year: 2004
    ..abstract_text> ..
  19. Computer Adaptive Testing of Functional Status
    Stephen Haley; Fiscal Year: 2008
    ..abstract_text> ..
  20. Regulation of capacitative calcium entry in porcine oocytes
    Zoltan Machaty; Fiscal Year: 2008
    ..By using the animals with specific genetic alterations it will be possible to better understand the mechanism of diseases and develop new and effective therapies. [unreadable] [unreadable] [unreadable]..
  21. IMPROVED METHODS FOR IN VIVO HEPATIC GENE THERAPY
    KATHERINE PONDER; Fiscal Year: 2006
    ..Success in this project might lead to a safe, effective, and permanent therapy for genetic deficiencies that involve proteins synthesized by the liver. ..
  22. GENE THERAPY FOR BLOOD PROTEIN DEFICIENCIES
    KATHERINE PONDER; Fiscal Year: 2005
    ..Success in this project might lead to a safe, effective, and permanent therapy for Hemophilia B. ..
  23. Computer Adaptive Testing of Pediatric Self-care and Social Function
    Stephen Haley; Fiscal Year: 2006
    ..Many rehabilitation settings may also find this measure helpful in meeting accreditation and institutional requirements for standardizing outcome monitoring in groups of children. [unreadable] [unreadable] [unreadable]..
  24. GENE THERAPY FOR LYSOSOMAL STORAGE DISEASE
    Gordon Watson; Fiscal Year: 2002
    ..4) Combine targeted treatments to effect a complete cure. Treatment with different AAV vectors and different modes of administration will be combined to maximize the benefit to the whole organism. ..