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ArticlesPeer ReviewedFull Text
Long-Term in vitro Correction of α -L-iduronidase Deficiency (Hurler Syndrome) in Human Bone Marrow
Author / Creator:Fairbairn, L. J. ; Lashford, L. S. ; Spooncer, E. ; McDermott, R. H. ; Lebens, G. ; Arrand, J. E. ; Arrand, J. R. ; Bellantuono, I. ; Holt, R. ; Hatton, C. E. ; Cooper, A. ; Besley, G. T. N. ; Wraith, J. E. ; Anson, D. S. ; Hopwood, J. J. ; Dexter, T. M.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1996-03, Vol.93 (5), p.2025-2030
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Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates
Author / Creator:Hinderer, Christian ; Bell, Peter ; Louboutin, Jean-Pierre ; Zhu, Yanqing ; Yu, Hongwei ; Lin, Gloria ; Choa, Ruth ; Gurda, Brittney L ; Bagel, Jessica ; O'Donnell, Patricia ; Sikora, Tracey ; Ruane, Therese ; Wang, Ping ; Tarantal, Alice F ; Casal, Margret L ; Haskins, Mark E ; Wilson, James M
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2015-08, Vol.23 (8), p.1298-1307
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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology
Author / Creator:Hampe, Christiane S ; Eisengart, Julie B ; Lund, Troy C ; Orchard, Paul J ; Swietlicka, Monika ; Wesley, Jacob ; McIvor, R Scott
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2020-08, Vol.9 (8), p.1838
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12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment
Author / Creator:Gabrielli, Orazio ; Clarke, Lorne A ; Ficcadenti, Anna ; Santoro, Lucia ; Zampini, Lucia ; Volpi, Nicola ; Coppa, Giovanni V
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2016-03, Vol.17 (1), p.19-19, Article 19
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Morphologic description of male reproductive accessory glands in a mouse model of mucopolysaccharidosis type I (MPS I)
Author / Creator:do Nascimento, Cinthia Castro ; Junior, Odair Aguiar ; D’Almeida, Vânia
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of molecular histology, 2020-04, Vol.51 (2), p.137-145
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Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Author / Creator:Kim, Chihwa ; Kwak, Min Jung ; Cho, Sung Yoon ; Ko, Ah-Ra ; Rheey, Jinguen ; Kwon, Jeong-Yi ; Chung, Yokyung ; Jin, Dong-Kyu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.121-121, Article 121
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Correction of Clinical Manifestations of Canine Mucopolysaccharidosis I with Neonatal Retroviral Vector Gene Therapy
Author / Creator:Traas, Anne M ; Wang, Ping ; Ma, Xiucui ; Tittiger, Mindy ; Schaller, Laura ; O'donnell, Patricia ; Sleeper, Meg M ; Vite, Charles ; Herati, Ramin ; Aguirre, Gustavo D ; Haskins, Mark ; Ponder, Katherine P
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2007-08, Vol.15 (8), p.1423-1431
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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
Author / Creator:Kingma, Sandra D K ; Langereis, Eveline J ; de Klerk, Clasine M ; Zoetekouw, Lida ; Wagemans, Tom ; Ĳlst, Lodewijk ; Wanders, Ronald J A ; Wijburg, Frits A ; van Vlies, Naomi
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.99-99, Article 99
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Neonatal Gene Therapy of MPS I Mice by Intravenous Injection of a Lentiviral Vector
Author / Creator:Kobayashi, Hiroshi ; Carbonaro, Denise ; Pepper, Karen ; Petersen, Denise ; Ge, Shundi ; Jackson, Holly ; Shimada, Hiroyuki ; Moats, Rex ; Kohn, Donald B.
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2005-05, Vol.11 (5), p.776-789
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ReportsFull Text
Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis
Author / Creator:Al Zaabi, Nuha Nasser ; Sirajum, Muneera ; Al-Wawi, Mohd Zaki ; Al Suwaiji, Mohammed
Journal title:Clinical case reports, 2022, Vol.10 (5), p.e05904-e05904
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A Canine Model of Human α -L-iduronidase Deficiency
Author / Creator:Spellacy, Elizabeth ; Shull, Robert M. ; Constantopoulos, George ; Neufeld, Elizabeth F.
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1983-10, Vol.80 (19), p.6091-6095
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Mucopolysaccharidosis type I and craniosynostosis
Author / Creator:Ziyadeh, Jawad ; Le Merrer, Martine ; Robert, Matthieu ; Arnaud, Eric ; Valayannopoulos, Vassili ; Di Rocco, Federico
Publisher:Vienna: Springer Vienna
Journal title:Acta neurochirurgica, 2013-10, Vol.155 (10), p.1973-1976
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Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice
Author / Creator:Liu, Yuli ; Xu, Lingfei ; Hennig, Anne K. ; Kovacs, Attila ; Fu, Annabel ; Chung, Sarah ; Lee, David ; Wang, Bin ; Herati, Ramin S. ; Mosinger Ogilvie, Judith ; Cai, Shi-Rong ; Parker Ponder, Katherine
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2005-01, Vol.11 (1), p.35-47
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ArticlesPeer ReviewedFull Text
Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
Author / Creator:Chkioua, Latifa ; Khedhiri, Souhir ; Ben Turkia, Hadhami ; Chahed, Henda ; Ferchichi, Salima ; Ben Dridi, Marie Françoise ; Laradi, Sandrine ; Miled, Abdelhedi
Publisher:England: BioMed Central
Journal title:Diagnostic pathology, 2011-11, Vol.6 (1), p.113-113, Article 113
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Genomic instability in blood cells from murine model of mucopolysaccharidosis type I
Author / Creator:Noguti, Juliana ; Pereira, Vanessa Gonçalves ; Martins, Ana Maria ; D’Almeida, Vânia ; Ribeiro, Daniel Araki
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of molecular histology, 2011-12, Vol.42 (6), p.575-578
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Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis
Author / Creator:Al Zaabi, Nuha Nasser ; Sirajum, Muneera ; Al‐Wawi, Mohd Zaki ; Al Suwaiji, Mohammed
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2022-05, Vol.10 (5), p.e05904-n/a
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ArticlesPeer ReviewedFull Text
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome
Author / Creator:Gentner, Bernhard ; Tucci, Francesca ; Galimberti, Stefania ; Fumagalli, Francesca ; De Pellegrin, Maurizio ; Silvani, Paolo ; Camesasca, Chiara ; Pontesilli, Silvia ; Darin, Silvia ; Ciotti, Francesca ; Sarzana, Marina ; Consiglieri, Giulia ; Filisetti, Chiara ; Forni, Giulia ; Passerini, Laura ; Tomasoni, Daniela ; Cesana, Daniela ; Calabria, Andrea ; Spinozzi, Giulio ; Cicalese, Maria-Pia ; Calbi, Valeria ; Migliavacca, Maddalena ; Barzaghi, Federica ; Ferrua, Francesca ; Gallo, Vera ; Miglietta, Simona ; Zonari, Erika ; Cheruku, Patali S ; Forni, Claudia ; Facchini, Marcella ; Corti, Ambra ; Gabaldo, Michela ; Zancan, Stefano ; Gasperini, Serena ; Rovelli, Attilio ; Boelens, Jaap-Jan ; Jones, Simon A ; Wynn, Robert ; Baldoli, Cristina ; Montini, Eugenio ; Gregori, Silvia ; Ciceri, Fabio ; Valsecchi, Maria G ; la Marca, Giancarlo ; Parini, Rossella ; Naldini, Luigi ; Aiuti, Alessandro ; Bernardo, Maria-Ester
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2021-11, Vol.385 (21), p.1929-1940
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ArticlesPeer ReviewedFull Text
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
Author / Creator:Raymond, Gerald V. ; Pasquali, Marzia ; Polgreen, Lynda E. ; Dickson, Patricia I. ; Miller, Weston P. ; Orchard, Paul J. ; Lund, Troy C.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-12, Vol.6 (1), p.38305-38305, Article 38305
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Author / Creator:Horovitz, Dafne Dain Gandelman ; Acosta, Angelina X ; Giugliani, Roberto ; Hlavatá, Anna ; Hlavatá, Katarína ; Tchan, Michel C ; Lopes Barth, Anneliese ; Cardoso, Jr, Laercio ; Embiruçu de Araújo Leão, Emília Katiane ; Esposito, Ana Carolina ; Kyosen, Sandra Obikawa ; De Souza, Carolina Fischinger Moura ; Martins, Ana Maria
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-04, Vol.11 (1), p.51-51, Article 51
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Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-Ig
Author / Creator:Ponder, Katherine P ; Wang, Baomei ; Wang, Ping ; Ma, Xiucui ; Herati, Ramin ; Wang, Bin ; Cullen, Karyn ; O'Donnell, Patty ; Ellinwood, N Matthew ; Traas, Anne ; Primeau, Tina M ; Haskins, Mark E
Publisher:United States: Elsevier Limited
Journal title:Molecular therapy, 2006-07, Vol.14 (1), p.5-13
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Showing 1 to 20 of 50 results

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Long-Term in vitro Correction of α -L-iduronidase Deficiency (Hurler Syndrome) in Human Bone Marrow

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Neonatal Systemic AAV Induces Tolerance to CNS Gene Therapy in MPS I Dogs and Nonhuman Primates

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Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology

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12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

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Morphologic description of male reproductive accessory glands in a mouse model of mucopolysaccharidosis type I (MPS I)

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Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome

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Correction of Clinical Manifestations of Canine Mucopolysaccharidosis I with Neonatal Retroviral Vector Gene Therapy

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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

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Neonatal Gene Therapy of MPS I Mice by Intravenous Injection of a Lentiviral Vector

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Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

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A Canine Model of Human α -L-iduronidase Deficiency

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Mucopolysaccharidosis type I and craniosynostosis

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Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice

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Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

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Genomic instability in blood cells from murine model of mucopolysaccharidosis type I

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Alpha‐L‐iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis

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Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome

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Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H

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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series

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Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-Ig

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