Results 41 to 50 of about 335,217 (205)

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism

Clinical and Translational Science, Volume 16, Issue 12, Page 2438-2457, December 2023., 2023
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose exploration approaches to inform efficient dose‐finding in future development of biological products for Inborn ...
Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang   +8 more
wiley   +1 more source

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

Voice alterations in patients with Morquio A syndrome [PDF]

Journal of Applied Genetics, 2017
Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin ...
Szklanny, Krzysztof, Gubrynowicz, Ryszard, Tylki-Szymańska, Anna   +2 more
openaire   +2 more sources

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

Orthopedic management of the extremities in patients with Morquio A syndrome. [PDF]

, 2014
BackgroundMusculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature,
Bache, C Edward, Harmatz, Paul R, Jester, Andrea, Mackenzie, William G, Shediac, Renée, Thacker, Mihir M, White, Klane K   +6 more
core   +1 more source

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023
Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter   +6 more
wiley   +1 more source

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]

, 2017
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I, Burton, Barbara K, Decker, Celeste, Geberhiwot, Tarekegn, Harmatz, Paul R, Hendriksz, Christian J, Jameson, Elisabeth, Jester, Andrea, Mengel, Eugen, Muschol, Nicole, Sisic, Zlatko, Treadwell, Marsha   +11 more
core   +1 more source

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (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 lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +2 more sources

A Narrative Review of Morquio Syndrome: Mucopolysaccharidosis (MPS) Type IV

Open Ophthalmology Journal, 2023
Morquio Syndrome or Mucopolysaccharidosis Type IV (MPS IV) is a rare inherited metabolic disorder characterized by the deficiency of certain lysosomal enzymes involved in the breakdown of mucopolysaccharides.
A. C. Robart, Abbey F. J. Alexander, Adil Al-Mehiawi, Ismael Abuallut, Nir Shoham Hazon   +4 more
semanticscholar   +1 more source