Results 11 to 20 of about 793,688 (114)

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case [PDF]

Вопросы современной педиатрии, 2020
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency.
Tatiana K. Kruchina, Konstantin V. Bruchikov, Gennady A. Novik   +2 more
doaj   +4 more sources

Clinical Case of Drug Allergy to Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II

Педиатрическая фармакология, 2022
Background. Enzyme replacement therapy (ERT) with iduronate-2-sulfatase recombinant forms (idursulfase and idursulfase beta) is effective for the management of mucopolysaccharidosis type II (MPS II).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Mariya S. Karaseva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina, Artur V. Zaz’yan   +9 more
doaj   +3 more sources

Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2023
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfate ...
Nato D. Vashakmadze, Nataliya V. Zhurkova, Ekaterina Yu. Zakharova, Ludmila K. Mikhaylova, Marina A. Babaykina   +4 more
doaj   +2 more sources

Toileting Abilities Survey as a Surrogate Outcome Measure for Cognitive Function: Findings From Neuronopathic Mucopolysaccharidosis II Patients Treated With Idursulfase and Intrathecal Idursulfase [PDF]

Molecular Genetics and Metabolism Reports, 2020
An outcome measure of toileting skills, the Toileting Abilities Survey or TAS, with sensitivity to detect change in a neurodegenerative disorder such as MPS II, was developed.
Lloyd J Edwards, Melissa Hogan, Chris Hendriksz   +2 more
exaly   +4 more sources

Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review [PDF]

International Journal of Molecular Sciences
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase. Signs and symptoms typically emerge at 1.5–4 years of age and may include cognitive impairment ...
David A H Whiteman, Walla Al-Hertani, Carolyn R Schaeffer-Koziol   +2 more
exaly   +3 more sources

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism. [PDF]

Clin Transl Sci, 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 ...
Hon YY, Wang J, Abodakpi H, Balakrishnan A, Pacanowski M, Chakder S, Smpokou P, Donohue K, Wang YC.   +8 more
europepmc   +2 more sources

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension. [PDF]

JIMD Rep
Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.   +14 more
europepmc   +2 more sources

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report. [PDF]

JIMD Rep, 2021
Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with idursulfase, but because the enzyme cannot cross the ...
Tomita K, Okamoto S, Seto T, Hamazaki T, So S, Yamamoto T, Tanizawa K, Sonoda H, Sato Y.   +8 more
europepmc   +2 more sources

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

Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2021
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina   +7 more
doaj   +1 more source