Results 11 to 20 of about 12,041 (191)

Study on the disease burden of patients with mucopolysaccharidosis type II in China [PDF]

Orphanet Journal of Rare Diseases
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 burden of the ...
Ni Yuan, Min Li, Shan-Shan Wang, Hua-Xin Yu, Ya-Qun Wang, Fan-Yu Dong, Han-Xiang Chen, Sheng-Nan Duan, Ji Luo   +8 more
doaj   +2 more sources

MUCOPOLYSACHARIDOSIS II AND SURGERY /REVIEW/ [PDF]

Trakia Journal of Sciences, 2020
Patients with type mucopolysaccharidosis/MPS/ II usually undergo surgery at an early age before the diagnosed. Mucopolysaccharidosis, type II is also known as Hunter syndrome.Recurrent early surgical interventions, especially for hernia or carpal tunnel ...
K. Kalinova, K. Georgiev, I. Mladenova
doaj   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +10 more sources

Mucopolysaccharidosis Type II—An Unexpected “3 in 1” Family [PDF]

Pediatrics and Neonatology, 2016
Hsiang-Yu Lin
doaj   +3 more sources

In vivo CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice [PDF]

Genes and Diseases
Hanfei Yu, Qian Qin, Shiyu Cui, Yujuan Wa, Kexian Dong, Wei Ji, Xueyuan Jia, Songbin Fu, Jie Wu, Wenjing Sun   +9 more
doaj   +2 more sources

Mucopolysachharidosis-II: A Rare Case Report

Nepal Journal of Dermatology, Venereology & Leprology, 2020
Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an ...
Kalgi Baxi, Ashish Jagati, Pooja Agarwal
doaj   +3 more sources

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

International Journal of Neonatal Screening, 2023
The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse   +4 more
doaj   +1 more source

Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type II is a disease caused by organ accumulation of glycosaminoglycans due to iduronate 2-sulfatase deficiency. This study investigated the pathophysiology of the bone complications associated with mucopolysaccharidosis II and the ...
Miho Wada, Yohta Shimada, Sayoko Iizuka, Natsumi Ishii, Hiromi Hiraki, Toshiaki Tachibana, Kazuhiro Maeda, Mitsuru Saito, Shoutaro Arakawa, Takuya Ishimoto, Takayoshi Nakano, Hiroyuki Ida, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +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

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +1 more source