PaulHarmatzMD

PubMed

• 1 citations
  Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.
  Bradley S Miller, Ellen B Fung, Klane K White, Troy C Lund, Paul Harmatz, Paul J Orchard, Chester B Whitley, Lynda E Polgreen> ;Journal of Inherited Metabolic Disease. 2023 Jul 1
• 2 citations
  A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
  Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Mauree...> ;The Journal of Clinical Investigation. 2023 Jan 17
• 12 citations
  Current and new therapies for mucopolysaccharidoses.
  Monica Penon-Portmann, David R Blair, Paul Harmatz> ;Pediatrics and Neonatology. 2023 Feb 1
• 14 citations
  First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.
  Paul Harmatz, Carlos E Prada, Barbara K Burton, Heather Lau, Craig M Kessler, Liching Cao, Marina Falaleeva, Andres G Villegas, Jennifer Zeitler, Kathleen Meyer, Westo...> ;Molecular Therapy. 2022 Dec 7
• 4 citations
  Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
  Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R Wilcox, John Philips, Natalie Owen, Carlos A Bacino, Louise Tofts, Joel Charrow, Lynda E Polgre...> ;Genetics in Medicine. 2022 Dec 1
• 13 citations
  Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.
  Joseph Muenzer, Barbara K Burton, Paul Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Simon A Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bra...> ;Molecular Genetics and Metabolism. 2022 Aug 2
• 5 citations
  Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.
  Joseph Muenzer, Barbara K Burton, Paul Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Simon A Jones, Nathalie Guffon, Michal Inbar-Feigenberg, Drago Bra...> ;Molecular Genetics and Metabolism. 2022 Aug 2
• 3 citations
  Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.
  Paul Harmatz, Joseph Muenzer, Fatih Ezgü, Per Dalén, Gunilla Huledal, Daniel Lindqvist, Stefan Svensson Gelius, Margareta Wikén, Kristin Önnestam, Anders Bröijersén> ;Molecular Genetics and Metabolism. 2022 Aug 1
• RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.
  Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond ...> ;Molecular Genetics and Metabolism Reports. 2022 Jun 1
• 4 citations
  Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
  Victor Kovac, Elsa G Shapiro, Kyle D Rudser, Bryon A Mueller, Julie B Eisengart, Kathleen A Delaney, Alia Ahmed, Kelly E King, Brianna D Yund, Morton J Cowan, Julian R...> ;Molecular Genetics and Metabolism. 2022 Feb 1
• 8 citations
  Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
  Marisa E Schwab, Julia E H Brown, Billie Lianoglou, Chengshi Jin, Patricia C Conroy, Renata C Gallagher, Paul Harmatz, Tippi C MacKenzie> ;Orphanet Journal of Rare Diseases. 2022 Jan 29
• 10 citations
  Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
  Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Sant...> ;Therapeutic Advances in Musculoskeletal Disease. 2022 Jan 1
• 1 citations
  Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.
  Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz, Sharon Charles> ;Orphanet Journal of Rare Diseases. 2021 Dec 2
• 11 citations
  Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the H...
  Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton> ;Orphanet Journal of Rare Diseases. 2021 Oct 30
• 19 citations
  Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a nove...
  Eugen Mengel, Marc C. Patterson, Rosalia M Da Riol, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Paul Harmatz, Bénédicte...> ;Journal of Inherited Metabolic Disease. 2021 Sep 7
• 28 citations
  Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
  Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Genetics in Medicine. 2021 Aug 2
• 7 citations
  Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.
  Paula Garcia, Dawn Phillips, JoAnn Johnson, Kenneth W. Martin, Linda M. Randolph, Howard Rosenfeld, Paul Harmatz> ;Molecular Genetics and Metabolism. 2021 Mar 14
• 65 citations
  Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
  Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Lancet. 2020 Sep 5
• 24 citations
  Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
  Johanna Hanneke Van der Lee, Jonathan Morton, Heather R. Adams, Lorne A. Clarke, Julie B. Eisengart, Maria L. Escolar, Roberto Giugliani, Paul Harmatz, Melissa Hogan, ...> ;Molecular Genetics and Metabolism. 2020 Sep 1
• Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab ...
  Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon R. Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden,...> ;Molecular Genetics and Metabolism. 2020 Aug 23
• 7 citations
  ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
  Sarah H. Elsea, Alexander Solyom, Kirt Martin, Paul Harmatz, John J. Mitchell, Christina Lampe, Christina Grant, Laila Selim, Neslihan Oneli Mungan, Norberto Guelbert,...> ;Human Mutation. 2020 May 25
• 4 citations
  Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
  Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin, Maurizio Scarpa> ;Orphanet Journal of Rare Diseases. 2020 Apr 19
• 15 citations
  The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII.
  Raymond Y. Wang, José Francisco da Silva Franco, Jaime López-Valdez, Esmeralda Martins, Vernon R. Sutton, Chester B. Whitley, Lin Zhang, Tricia Cimms, Deborah Marsden,...> ;Molecular Genetics and Metabolism. 2020 Mar 1
• 14 citations
  Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
  Agnes Chen, Paul Harmatz, Igor Nestrasil, Julie B. Eisengart, Kelly King, Kyle Rudser, Alexander M. Kaizer, Alena Svátková, Amy Wakumoto, Steven Q. Le, Jacqueline Madd...> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 8 citations
  Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population.
  Christine Haller, Wenjie Song, Tricia Cimms, Chao Yin Chen, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Paul Harmatz> ;JIMD Reports. 2019 Sep 1
• Join now to see all