Results 11 to 20 of about 550 (133)

Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor [PDF]

Molecular Genetics and Metabolism Reports, 2020
The efficacy of enzyme replacement therapy (ERT) for lysosomal storage diseases (LSDs) possibly depends on the cellular uptake of recombinant lysosomal enzymes (LEs), and it is known that cation-independent mannose 6-phosphate receptor (CI-M6PR) on the ...
Minori Kanzaki, Takahiro Tsukimura, Yasunori Chiba, Hitoshi Sakuraba, Tadayasu Togawa   +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]

Mol Genet Metab Rep, 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.
Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ.   +6 more
europepmc   +3 more sources

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil. [PDF]

Mol Ther, 2021
In Hunter syndrome (mucopolysaccharidosis II [MPS-II]),systemic accumulation of glycosaminoglycans (GAGs) dueto a deficiency of iduronate-2-sulfatase (IDS), caused by mu-tations in theIDSgene, leads to multiple somatic manifesta-tions and in patients ...
Giugliani R, Martins AM, So S, Yamamoto T, Yamaoka M, Ikeda T, Tanizawa K, Sonoda H, Schmidt M, Sato Y.   +9 more
europepmc   +3 more sources

Glycosaminoglycan Storage Disorders: A Review [PDF]

Biochemistry Research International, Volume 2012, Issue 1, 2012., 2011
Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased
Alves, Sandra, Coutinho, Maria Francisca, Lacerda, Lúcia   +2 more
core   +4 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

The top 100 most cited articles on mucopolysaccharidoses: a bibliometric analysis. [PDF]

Front Genet
Background: Bibliometrics can trace general research trends in a particular field. Mucopolysaccharidoses (MPS), as a group of rare genetic diseases, seriously affect the quality of life of patients and their families.
Liao R, Geng R, Yang Y, Xue Y, Chen L, Chen L.   +5 more
europepmc   +3 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

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   +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

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