Results 1 to 10 of about 793,688 (114)

Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series [PDF]

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is a rare X-linked, recessive, lysosomal storage disorder caused by the deficit of the enzyme iduronate 2-sulfatase (IDS), resulting in accumulation of glycosaminoglycans (GAGs) impairing cellular ...
Mei-Yan Chan, Andrew Jack Nelson, Lock-Hock Ngu   +2 more
doaj   +7 more sources

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II [PDF]

Molecular Genetics and Metabolism Reports, 2017
Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2
Lock-Hock Ngu, Winnie Ong Peitee, Huey Yin Leong, Hui Bein Chew   +3 more
doaj   +7 more sources

Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus [PDF]

Therapeutic Advances in Rare Disease
Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
doaj   +6 more sources

Phase I/II Clinical Trial of Enzyme Replacement Therapy With Idursulfase Beta in Patients With Mucopolysaccharidosis II (Hunter Syndrome) [PDF]

Orphanet Journal of Rare Diseases, 2013
BACKGROUND: Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS).
Sung Won Park, Young Bae Sohn, Su Jin Kim   +2 more
exaly   +7 more sources

Sustained clinical benefit of idursulfase beta in mucopolysaccharidosis II: two-year experience from a phase 3 extension study including patients switched from idursulfase [PDF]

Orphanet Journal of Rare Diseases
Background Long-term safety and efficacy data on enzyme replacement therapy, particularly switching between recombinant iduronate-2-sulfatase formulations, remain limited in mucopolysaccharidosis II (MPS II). This open-label extension study included male
Minji Im, Ari Song, Hyojung Park, Jiyeon Kim, Chiwoo Kim, Eu-Seon Noh, Ga young Bae, Juyoung Sung, JiHoon Hwang, Yoon Ji Ahn, Haein Kim, Youngsin Oh, Bogyeong Kim, Sung Yoon Cho   +13 more
doaj   +4 more sources

Comparative Study of Idursulfase Beta and Idursulfase in Vitro and in Vivo [PDF]

Journal of Human Genetics, 2017
Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome.
Kim C, Seo J, Chung Y, Ji HJ, Lee J, Sohn J, Lee B, Jo EC.   +7 more
exaly   +5 more sources

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II [PDF]

Molecular Therapy: Methods & Clinical Development, 2021
This open-label, phase 1/2 study (JMACCT CTR JMA-IIA00350) evaluated the efficacy and safety of intracerebroventricular idursulfase beta in patients with mucopolysaccharidosis II (MPS II). Herein, we report the 100-week results.
Joo-Hyun Seo, Motomichi Kosuga, Takashi Hamazaki, Haruo Shintaku, Torayuki Okuyama   +4 more
doaj   +2 more sources

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age [PDF]

Molecular Genetics and Metabolism Reports
Neuronopathic mucopolysaccharidosis type II (MPS II) is a severe lysosomal storage disorder associated with early-onset developmental regression and a poor prognosis.
Azuma Ikari, Asahito Hama, Torayuki Okuyama   +2 more
doaj   +2 more sources

Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening [PDF]

International Journal of Neonatal Screening
Enzyme replacement therapy (ERT) for central nervous system symptoms and newborn screening (NBS) is available in Japan for patients with mucopolysaccharidosis type II (MPS II).
Yuki Ueda, Shinsuke Hirabayashi, Masayuki Miura, Satoshi Yamada, Sachiko Nakakubo, Midori Nakajima, Takeru Goto, Jutaro Abe, Yukayo Terashita, Atsushi Manabe, Torayuki Okuyama, Kiyoshi Egawa   +11 more
doaj   +2 more sources

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