Browsing by Author "Muenzer, Joseph"
Now showing items 1-8 of 8
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A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
Mehta, Atul B.; Ramaswami, Uma; Muenzer, Joseph; Giugliani, Roberto; Ullrich, Kurt; Histed, Tanya Collin; Panahloo, Zoya; Wellhoefer, Hartmann; Frader, Joel (2021) [Journal article]Background: Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‑ tions and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement ... -
Evaluation of the long-term treatment efects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling : data from the Hunter Outcome Survey (HOS)
Muenzer, Joseph; Botha, Jaco; Harmatz, Paul; Giugliani, Roberto; Kampmann, Christoph; Burton, Barbara K. (2021) [Journal article]Background: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by defcient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) ... -
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
Clarke, Lorne A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Keenan, Hillary; Munõz Rojas, Maria Verônica; Okuyama, Torayuki; Viskochil, David H.; Whitley, Chester B.; Wijburg, Frits; Muenzer, Joseph (2019) [Journal article]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ... -
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases : a survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries
Elstein, Deborah; Giugliani, Roberto; Muenzer, Joseph; Schenk, Jörn Magnus; Schwartz, Ida Vanessa Doederlein; Anagnostopoulou, Christina (2021) [Journal article]the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemic had negatively affected standards of care. With increased reliance on tele-medicine, ... -
Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I
Giugliani, Roberto; Muschol, Nicole; Keenan, Hillary; Dant, Mark; Muenzer, Joseph (2021) [Journal article]Objective Early diagnosis and treatment initiation are important factors for successful treatment of mucopolysaccharidosis type I (MPS I). The purpose of this observational study was to assess whether age at diagnosis and ... -
Sanfilippo syndrome : consensus guidelines for clinical care
Muschol, Nicole; Giugliani, Roberto; Jones, Simon A.; Muenzer, Joseph; Smith, Nicholas J. C.; Whitley, Chester B.; Donnell, Megan; Drake, Elise; Elvidge, Kristina; Melton, Lisa; O’Neill, Cara (2022) [Journal article]Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive neurological ... -
Ten years of the Hunter Outcome Survey (HOS) : insights, achievements, and lessons learned from a global patient registry
Muenzer, Joseph; Jones, Simon A.; Tylki-Szymanska, Anna; Harmatz, Paul; Mendelsohn, Nancy J.; Guffon, Nathalie; Giugliani, Roberto; Burton, Barbara K.; Scarpa, Maurizio; Beck, Michael; Jangelind, Yvonne; Hernberg-Stahl, E.; Larsen, Maria Paabøl; Pulles, Tom; Whiteman, David A.H. (2017) [Journal article]Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. ... -
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints
Van der Lee, Johanna Hanneke; Morton, Jonathan; Adams, Heather R.; Clarke, Lorne A.; Eisengart, Julie B.; Escolar, Maria Luisa; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Kearney, Shauna; Muenzer, Joseph; Muschol, Nicole; Rust, Stewart; Saville, Benjamin R.; Semrud-Clikeman, Margaret T.; Wang, Raymond Y.; Shapiro, Elsa G. (2020) [Journal article]Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential ...