Citations (52)
Keep up to date with the latest research on this topic with citation updates for this article.
Read on this site (4)
Anna Tylki-Szymańska & Agnieszka Jurecka. (2015) Prospective therapies for mucopolysaccharidoses. Expert Opinion on Orphan Drugs 3:11, pages 1241-1253.
Read now
Read now
Agnieszka Jurecka & Anna Tylki-Szymańska. (2015) Enzyme replacement therapy: lessons learned and emerging questions. Expert Opinion on Orphan Drugs 3:3, pages 293-305.
Read now
Read now
J E Wraith. (2005) The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opinion on Pharmacotherapy 6:3, pages 489-506.
Read now
Read now
Gregory M Pastores. (2003) Enzyme therapy for the lysosomal storage disorders: principles, patents, practice and prospects. Expert Opinion on Therapeutic Patents 13:8, pages 1157-1172.
Read now
Read now
Articles from other publishers (48)
Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann & Florian Lagler. (2023) RETRACTED: An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 15:5, pages 1565.
Crossref
Crossref
Pragyan Mishra, Shibangini Beura & Rahul Modak. 2021. Bioprospecting of Enzymes in Industry, Healthcare and Sustainable Environment. Bioprospecting of Enzymes in Industry, Healthcare and Sustainable Environment
315
347
.
Esteban A. Gonzalez, Fernanda Visioli, Gabriela Pasqualim, Carolina F. M. de Souza, Diane R. Marinho, Roberto Giugliani, Ursula Matte & Guilherme Baldo. (2020) Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy. Clinical & Experimental Ophthalmology 48:3, pages 334-342.
Crossref
Crossref
Noemi Veraldi, Nawel Zouggari & Ariane de Agostini. (2020) The Challenge of Modulating Heparan Sulfate Turnover by Multitarget Heparin Derivatives. Molecules 25:2, pages 390.
Crossref
Crossref
Nathalie Guffon, Pierre Journeau, Anaïs Brassier, Juliane Leger & Bertrand Chevallier. (2019) Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. European Journal of Pediatrics 178:4, pages 593-603.
Crossref
Crossref
Maurizio Scarpa, Paul J. Orchard, Angela Schulz, Patricia I. Dickson, Mark E. Haskins, Maria L. Escolar & Roberto Giugliani. (2017) Treatment of brain disease in the mucopolysaccharidoses. Molecular Genetics and Metabolism 122, pages 25-34.
Crossref
Crossref
Harold ChenHarold Chen. 2017. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
1943
1961
.
Harold ChenHarold Chen. 2014. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
1
19
.
H. Noh & J. I. Lee. (2014) Current and potential therapeutic strategies for mucopolysaccharidoses. Journal of Clinical Pharmacy and Therapeutics 39:3, pages 215-224.
Crossref
Crossref
Sung Yoon Cho, Young Bae Sohn & Dong-Kyu Jin. (2014) An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network. Intractable & Rare Diseases Research 3:3, pages 79-86.
Crossref
Crossref
Frances M. Platt, Barry Boland & Aarnoud C. van der Spoel. (2012) Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. Journal of Cell Biology 199:5, pages 723-734.
Crossref
Crossref
Yong Hong Chen, Kristin Claflin, James C Geoghegan & Beverly L Davidson. (2012) Sialic Acid Deposition Impairs the Utility of AAV9, but Not Peptide-modified AAVs for Brain Gene Therapy in a Mouse Model of Lysosomal Storage Disease. Molecular Therapy 20:7, pages 1393-1399.
Crossref
Crossref
Pericles Calias, Mikhail Papisov, Jing Pan, Nancy Savioli, Vasily Belov, Yan Huang, Jason Lotterhand, Mary Alessandrini, Nan Liu, Alan J. Fischman, Jan L. Powell & Michael W. Heartlein. (2012) CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder. PLoS ONE 7:1, pages e30341.
Crossref
Crossref
Gregory M. Pastores. 2012. Swaiman's Pediatric Neurology. Swaiman's Pediatric Neurology
403
451
.
. 2012. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
1395
1407
.
Brian R. FeliceTeresa L. WrightRobert B. Boyd, Mark T. Butt, Richard W. Pfeifer, Jing Pan, Juan A. Ruiz, Michael W. Heartlein & Pericles Calias. (2011) Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys. Toxicologic Pathology 39:5, pages 879-892.
Crossref
Crossref
Brigitta E Miyamoto & Emil D Kakkis. (2011) The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases. Orphanet Journal of Rare Diseases 6:1, pages 49.
Crossref
Crossref
David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar, J. Ed Wraith & Martin B. Delatycki. 2011. JIMD Reports - Case and Research Reports, 2011/1. JIMD Reports - Case and Research Reports, 2011/1
9
15
.
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, Taiane Vieira, Osvaldo Artigalás, Louise Lapagesse Pinto, Ana Cecília Azevedo, Angelina Acosta, Carmen Bonfim, Charles Marques Lourenço, Kim Chong Ae, Dafne Horovitz, Denize Bonfim, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Valadares, Fábio Guarany, Gisele Rosone de Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Correa Neto, José Carlos Fraga, José Eduardo Goes, José Maria Cabral, José Simionato, Juan Llerena Jr., Laura Jardim, Liane Giuliani, Luiz Carlos Santana da Silva, Mara L. Santos, Maria Angela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Souza, Flavio F. Alcantara, Silvio Gilberto A. Avilla, Simone Fagondes & Ana Maria Martins. (2010) Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology 33:4, pages 589-604.
Crossref
Crossref
Chantelle McIntyre, Sharon Byers & Donald S. Anson. (2010) Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer. The Journal of Gene Medicine 12:9, pages 717-728.
Crossref
Crossref
Melita Dvorak-Ewell, Dan Wendt, Chuck Hague, Terri Christianson, Vish Koppaka, Danielle Crippen, Emil Kakkis & Michel Vellard. (2010) Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice. PLoS ONE 5:8, pages e12194.
Crossref
Crossref
D M McCarty, J DiRosario, K Gulaid, J Muenzer & H Fu. (2009) Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. Gene Therapy 16:11, pages 1340-1352.
Crossref
Crossref
Ana Maria Martins, Ana Paula Dualibi, Denise Norato, Edna Tiemi Takata, Emerson S. Santos, Eugênia Ribeiro Valadares, Gilda Porta, Gisele de Luca, Gustavo Moreira, Helena Pimentel, Janice Coelho, Jaime Moritz Brum, José Semionato Filho, Marcelo Soares Kerstenetzky, Márcia R. Guimarães, Maria Verónica Muñoz Rojas, Paulo Cesar Aranda, Ricardo Flores Pires, Rodrigo G.C. Faria, Ronald Moura Vale Mota, Ursula Matte & Zelita Caldeira Ferreira Guedes. (2009) Guidelines for the Management of Mucopolysaccharidosis Type I. The Journal of Pediatrics 155:4, pages S32-S46.
Crossref
Crossref
Roberto Giugliani, Verónica Muñoz Rojas, Ana Maria Martins, Eugênia R. Valadares, Joe T.R. Clarke, José E.C. Góes, Emil D. Kakkis, Mary Alice Worden, Marisa Sidman & Gerald F. Cox. (2009) A dose-optimization trial of laronidase (Aldurazyme®) in patients with mucopolysaccharidosis I. Molecular Genetics and Metabolism 96:1, pages 13-19.
Crossref
Crossref
Georg‐Burkhard Kresse. 2003. Ullmann's Encyclopedia of Industrial Chemistry. Ullmann's Encyclopedia of Industrial Chemistry.
Mark J Osborn, Ron T McElmurry, Brandon Peacock, Jakub Tolar & Bruce R Blazar. (2008) Targeting of the CNS in MPS-IH Using a Nonviral Transferrin-α-l-iduronidase Fusion Gene Product. Molecular Therapy 16:8, pages 1459-1466.
Crossref
Crossref
David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar, J. Ed Wraith & Martin B. Delatycki. (2008) Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families. The Journal of Pediatrics 152:5, pages 723-727.
Crossref
Crossref
. 2007. Enzymes in Industry. Enzymes in Industry
423
483
.
H Fu, L Kang, J S Jennings, S S Moy, A Perez, J DiRosario, D M McCarty & J Muenzer. (2007) Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. Gene Therapy 14:14, pages 1065-1077.
Crossref
Crossref
IM Hayes, V Collins, M Sahhar, JE Wraith & MB Delatycki. (2007) Newborn screening for mucopolysaccharidoses: opinions of patients and their families. Clinical Genetics 71:5, pages 446-450.
Crossref
Crossref
Ralph S. Lachman. 2007. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias
474
554
.
. 2006. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling
669
677
.
U. Wollina, E. Kauf, J. Seidel & E. Köstler. 2006. Pädiatrische Dermatologie. Pädiatrische Dermatologie
525
573
.
Anna Kloska, Jerzy Bohdanowicz, Grażyna Konopa, Anna Tylki‐Szymńska, Joanna Jakóbkiewicz‐Banecka, Barbara Czartoryska, Anna Liberek, Alicja Węgrzyn & Grzegorz Węgrzyn. (2005)
Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human α‐
L
‐iduronidase (laronidase, Aldurazyme)
. American Journal of Medical Genetics Part A 139A:3, pages 199-203.
Crossref
Crossref
S. Laradi, T. Tukel, M. Erazo, J. Shabbeer, L. Chkioua, S. Khedhiri, S. Ferchichi, M. Chaabouni, A. Miled & R. J. Desnick. (2005)
Mucopolysaccharidosis I: α‐
L
‐Iduronidase mutations in three Tunisian families
. Journal of Inherited Metabolic Disease 28:6, pages 1019-1026.
Crossref
Crossref
Suresh Vijay & J Ed Wraith. (2007) Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatrica 94:7, pages 872-877.
Crossref
Crossref
Gregory M Pastores & Patrick A Meere. (2005) Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Current Opinion in Rheumatology 17:1, pages 70-78.
Crossref
Crossref
M. Dürrschmid, C. Jursik, N. Borth, R. Grabherr & O. Doblhoff-Dier. 2005. Animal Cell Technology Meets Genomics. Animal Cell Technology Meets Genomics
43
49
.
Thomas J. Sferra, Kristin Backstrom, Chuansong Wang, Rachel Rennard, Matt Miller & Yan Hu. (2004) Widespread Correction of Lysosomal Storage Following Intrahepatic Injection of a Recombinant Adeno-associated Virus in the Adult MPS VII Mouse. Molecular Therapy 10:3, pages 478-491.
Crossref
Crossref
Debra L. Schutte. (2004) The evolving role of genomics in shaping care for persons with dementia. Nursing Clinics of North America 39:3, pages 581-592.
Crossref
Crossref
William S. Prince, Lynn M. McCormick, Dan J. Wendt, Paul A. Fitzpatrick, Keri L. Schwartz, Allora I. Aguilera, Vishwanath Koppaka, Terri M. Christianson, Michel C. Vellard, Nadine Pavloff, Jeff F. Lemontt, Minmin Qin, Chris M. Starr, Guojun Bu & Todd C. Zankel. (2004) Lipoprotein Receptor Binding, Cellular Uptake, and Lysosomal Delivery of Fusions between the Receptor-associated Protein (RAP) and α-l-Iduronidase or Acid α-Glucosidase. Journal of Biological Chemistry 279:33, pages 35037-35046.
Crossref
Crossref
Paulina Mabe, Alf Valiente, Vivian Soto, Verónica Cornejo & Erna Raimann. (2004) Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. Clinica Chimica Acta 345:1-2, pages 135-140.
Crossref
Crossref
G Wȩgrzyn, A Wȩgrzyn & A Tylki-Szymańska. (2004) A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses. Medical Hypotheses 62:6, pages 986-992.
Crossref
Crossref
R. P. E. Sarkany, S. M. Breathnach, C. A. Seymour, K. Weismann & D. A. Burns. 2004. Rook's Textbook of Dermatology. Rook's Textbook of Dermatology
2845
2968
.
Wolfgang Aehle, Richard N. Perham, Gerhard Michal, Albert Jonke, Gopal K. Chotani, Timothy C. Dodge, Andreas Herman Terwisscha van Scheltinga, Christian Gölker, Meng H. Heng, John Kan, Todd Becker, Saburo Fukui, Atsuo Tanaka, Hans de Nobel, Brian Jones, Rick Bott, Charlotte Horsmans Poulsen, Karsten M. Kragh, Jens Frisback Sorensen, Catherine Grassin, Marga Herweijer, Jan Wilms, André de Roos, Jorn Borch Soe, Ivan Herbots, Beatrix Kottwitz, Peter J. Reilly, Richard L. Antrim, Heidi Burrows, Herman B. M. Lenting, Liisa Viikari, Anna Suurnäkki, Marja-Leena Niku-Paavola, Johanna Buchert, Karl-Heinz Maurer, Andrea Saettler, Herbert Waldmann, Carsten Schultz, Harald Gröger, Carlo Dinkel, Karlheinz Drauz, Georg-Burkhard Kresse, Rainer Schmuck, Karl Wulff, Günther Henniger, Christoph Kessler, Alice J. Caddow & Beth Concoby. 2000. Ullmann's Encyclopedia of Industrial Chemistry. Ullmann's Encyclopedia of Industrial Chemistry.
Gregory A. Grabowski & Robert J. Hopkin. (2003) Enzyme Therapy for Lysosomal Storage Disease: Principles, Practice, and Prospects. Annual Review of Genomics and Human Genetics 4:1, pages 403-436.
Crossref
Crossref
N Raben, M Danon, A.L Gilbert, S Dwivedi, B Collins, B.L Thurberg, R.J Mattaliano, K Nagaraju & P.H Plotz. (2003) Enzyme replacement therapy in the mouse model of Pompe disease. Molecular Genetics and Metabolism 80:1-2, pages 159-169.
Crossref
Crossref
Michel Vellard. (2003) The enzyme as drug: application of enzymes as pharmaceuticals. Current Opinion in Biotechnology 14:4, pages 444-450.
Crossref
Crossref