Results 31 to 40 of about 783 (129)

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS).
Christoph Kampmann, Christina Lampe, Christiane M. Wiethoff, Laila Arash‐Kaps, Eugen Mengel, Joerg Reinke, Michael Beck, Julia B. Hennermann, Tariq Abu‐Tair   +8 more
wiley   +2 more sources

Enzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Review

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze, Natalya V. Zhurkova, Olga B. Gordeeva, Elena V. Komarova, Tatyana E. Privalova, Anastasya I. Rykunova, Marina А. Babaykina   +6 more
doaj   +1 more source

Idursulfase pharmacokinetics, cellular uptake, and pharmacodynamics: Effect of sialylation and manufacturing process

Engineering Reports, 2020
Recombinant iduronate‐2‐sulfatase (idursulfase) is available for the treatment of mucopolysaccharidosis II (MPS II). The effectiveness of this glycoprotein may depend on post‐translational modifications such as glycosylation and sialylation during ...
Antony R. Garcia, Justin Lamsa, David A. H. Whiteman, Joseph Muenzer   +3 more
doaj   +1 more source

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

Accelerated approval drug labels often lack information for clinical decision‐making

Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 43, Issue 4, Page 300-304, April 2023., 2023
Abstract Study objective We evaluated US Food and Drug Administration labels for drugs approved under the accelerated approval pathway and whether these labels contained in sufficient information regarding their accelerated approval. Design Retrospective, observational, cohort study.
Jeromie Ballreich, Mariana Socal, Charles L. Bennett, Andrew Xuan, Antonio Trujillo, Gerard Anderson   +5 more
wiley   +1 more source

Non-Neuropathic Form of Mucopolysaccharidosis Type II: Clinical Cases

Вопросы современной педиатрии, 2021
Background. Mucopolysaccharidosis (MPS) type II is an X-linked hereditary disease from the lysosomal storage diseases group. The absence or malfunctioning of the iduronate-2-sulfatase enzyme leads to disruption in glycosaminoglycans (GAG) degradation ...
Nato D. Vashakmadze, Natalia V. Zhurkova, Leyla S. Namazova-Baranova, Nina V. Fedorova, Marina A. Babaykina   +4 more
doaj   +1 more source

The Inflation Reduction Act: A boon for the generic and biosimilar industry

Journal of Clinical Pharmacy and Therapeutics, Volume 47, Issue 11, Page 1738-1751, November 2022., 2022
The Inflation Reduction Act gives a significant boost to generics and biosimilars!Soon lowered out‐of‐pocket costBiosimilars promoted and adopted Abstract What is Known and Objective After more than a year of negotiation, a $740 billion climate and health care bill known as The Inflation Reduction Act (IRA) became law on 16 August 2022.
Sarfaraz K. Niazi
wiley   +1 more source

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet

American Journal of Medical Genetics Part A, Volume 185, Issue 11, Page 3350-3358, November 2021., 2021
Abstract From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects.
Hilary J. Vernon, Irini Manoli
wiley   +1 more source

Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study [PDF]

, 2023
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized ...
Jones, Simon A., Wu, Yuna, Ruiz-Garcia, Matilde, Whiteman, David A.H., Yee, Karen S., Inbar-Feigenberg, Michal, Gutiérrez-Solana, Luis González, Guffon, Nathalie, Hale, Michael, Alexanderian, David, Harmatz, Paul, Bratkovic, Drago, Burton, Barbara K., HGT-HIT-094 Study Group, Muenzer, Joseph   +14 more
core   +1 more source