Zobrazeno 1 - 10
of 1 201
pro vyhledávání: '"mucopolysaccharidosis type II"'
Autor:
Ni Yuan, Min Li, Shan-Shan Wang, Hua-Xin Yu, Ya-Qun Wang, Fan-Yu Dong, Han-Xiang Chen, Sheng-Nan Duan, Ji Luo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background In this study, we investigated the patient population of Mucopolysaccharidosis type II (MPS II) in China, understood the basic situation, prevalence and diagnosis and treatment status of the patients, as well as the economic burde
Externí odkaz:
https://doaj.org/article/0c18fe8a60ab43e2b29389ba68bf91d1
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-10 (2024)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degra
Externí odkaz:
https://doaj.org/article/fa0cf8ca34fb4d4cabccc1d48a6437e2
Publikováno v:
Вопросы современной педиатрии, Vol 23, Iss 4, Pp 266-270 (2024)
Mucopolysaccharidosis type II (Hunter syndrome, MPS II) is a rare hereditary disease from the group of hereditary metabolic diseases. There are neuropathic and non-neuropathic forms of this disease. The neuropathic form is most common and leads to se
Externí odkaz:
https://doaj.org/article/1a2bda5d6ea04fa6a3138688f271963e
Autor:
Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was appro
Externí odkaz:
https://doaj.org/article/3b9646a1ea054cb8a5f75542acdb5f2f
Autor:
Yusuke Hattori, Jun Kido, Keishin Sugawara, Takaaki Sawada, Shirou Matsumoto, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101139- (2024)
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes. Traditionally, genotyping of the IDS gene has be
Externí odkaz:
https://doaj.org/article/74e4a51be7494b96b0c5587e3b0fdee2
Autor:
Miles C. Smith, Lalitha R. Belur, Andrea D. Karlen, Olivia Erlanson, Justin Furcich, Troy C. Lund, Davis Seelig, Kelley F. Kitto, Carolyn A. Fairbanks, Kwi Hye Kim, Nick Buss, R. Scott McIvor
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101201- (2024)
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disease caused by iduronate-2-sulfatase (IDS) deficiency, leading to accumulation of glycosaminoglycans (GAGs) and the emergence of progressive disease. Enzyme replacement ther
Externí odkaz:
https://doaj.org/article/a2a8c79881364444bb7633c2c34e66ec
Autor:
Fabio Catalano, Eva C. Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F. Huizer, Jeroen C. van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J.M.P. van den Hout, Esmeralda Oussoren, George J.G. Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101149- (2023)
Mucopolysaccharidosis type II (OMIM 309900) is a lysosomal storage disorder caused by iduronate 2-sulfatase (IDS) deficiency and accumulation of glycosaminoglycans, leading to progressive neurodegeneration. As intravenously infused enzyme replacement
Externí odkaz:
https://doaj.org/article/b5d4b8c54ded4c49bef358a40cc79d0d
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101005- (2023)
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have neuronopathic disease, with central nervous system involvement; one-third have non-neuronopathic disease. This analysis of data from the Hunter Outcome
Externí odkaz:
https://doaj.org/article/0f581cf4275947cc8ca13edda58177b9
Autor:
Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101003- (2023)
Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients. This disease is cl
Externí odkaz:
https://doaj.org/article/642c5eeae3634f7fa2a355daad47e2e0
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract Data on Mucopolysaccharidosis type II (MPS II) in Latin America are scarce. This retrospective database study, using data from the Informatics Department of the Brazilian Health System (DATASUS), aimed to estimate the prevalence of MPSII in
Externí odkaz:
https://doaj.org/article/2d5b0caff2cd48cfaf899d4350679314