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11 result(s) for 'author#Paul Harmatz' within BMC

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  2. Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosom...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…
    Citation: Orphanet Journal of Rare Diseases 2019 14:137
    Content type: Research Published on:

  3. Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogenei...

    Authors: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen…
    Citation: Orphanet Journal of Rare Diseases 2019 14:118
    Content type: Research Published on:

  4. Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) ...

    Authors: Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann and Barbara K. Burton
    Citation: Orphanet Journal of Rare Diseases 2021 16:456
    Content type: Research Published on:

  5. The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multi-organ and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision,...

    Authors: Roberto Giugliani, Paul Harmatz, Shuan-Pei Lin and Maurizio Scarpa
    Citation: Orphanet Journal of Rare Diseases 2020 15:97
    Content type: Review Published on:

  6. Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder characterized by progressive multi-organ disease. The standard of care for patients with the severe phenotype (Hurler syndrome, MPS I-H) is ...

    Authors: Eveline J Langereis, Andrea Borgo, Ellen Crushell, Paul R Harmatz, Peter M van Hasselt, Simon A Jones, Paula M Kelly, Christina Lampe, Johanna H van der Lee, Thierry Odent, Ralph Sakkers, Maurizio Scarpa, Matthias U Schafroth, Peter A Struijs, Vassili Valayannopoulos, Klane K White…
    Citation: Orphanet Journal of Rare Diseases 2013 8:155
    Content type: Research Published on:

  7. Research about pediatric patients’ perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function...

    Authors: Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz and Sharon Charles
    Citation: Orphanet Journal of Rare Diseases 2021 16:500
    Content type: Research Published on:

  8. Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease ons...

    Authors: Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz and Tippi C. MacKenzie
    Citation: Orphanet Journal of Rare Diseases 2022 17:25
    Content type: Research Published on:

  9. 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-sulfa...

    Authors: Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles and David A. H. Whiteman
    Citation: Orphanet Journal of Rare Diseases 2017 12:82
    Content type: Review Published on:

  10. Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth...

    Authors: Vassili Valayannopoulos, Helen Nicely, Paul Harmatz and Sean Turbeville
    Citation: Orphanet Journal of Rare Diseases 2010 5:5
    Content type: Review Published on: