Results 61 to 70 of about 1,275 (171)

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вопросы современной педиатрии, 2020
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina   +6 more
doaj   +1 more source

The thesis of judicialization of health care by the elites : medication for mucopolysaccharidosis [PDF]

, 2013
O artigo avalia a hipótese de se a judicialização de medicamentos para o tratamento das mucopolissacaridoses no Brasil seria uma ação das elites econômicas.
Diniz, Debora, Medeiros, Marcelo, Schwartz, Ida Vanessa Doederlein   +2 more
core   +2 more sources

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

Frontiers in Immunology, 2020
A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing.
Daniel C. Julien, Kara Woolgar, Laura Pollard, Holly Miller, Ankit Desai, Kristin Lindstrom, Priya S. Kishnani   +6 more
doaj   +1 more source

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +2 more sources

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry

Orphanet Journal of Rare Diseases, 2021
Background Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation, caused by a deficiency of iduronate-2-sulfatase (I2S).
Marie Julianne C. Racoma, Maria Kristina Karizza B. Calibag, Cynthia P. Cordero, Mary Ann R. Abacan, Mary Anne D. Chiong   +4 more
doaj   +1 more source

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Respiratory and sleep disorders in mucopolysaccharidosis [PDF]

, 2012
MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues.
Ciarán McArdle, David M. Rapoport, Karen A. Hardy, Kenneth I. Berger, Kuo Sheng Lee, Martin J. Tobin, Maurizio Scarpa, Roberto Giugliani, Simone C. Fagondes, Susan A. Ward   +9 more
core   +1 more source

EFFICACY AND SAFETY OF ENZYME REPLACEMENT THERAPY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS TYPE I, II, AND VI: A SINGLE-CENTER COHORT STUDY

Вопросы современной педиатрии, 2018
Background. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS).Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II, and VI.
Liliia A. Osipova, Ludmila M. Kuzenkova, Leyla S. Namazova-Baranova, Anait K. Gevorkyan, Tatiana V. Podkletnova, Nikolay A. Mayanskiy, Grigoriy V. Revunenkov, Nato D. Vashakmadze   +7 more
doaj   +1 more source

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   +1 more source

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

, 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, Roberto, Ikeda, Toshiaki, Martins, Ana Maria (Medicina), Sato, Yuji, Schmidt, Mathias, So, Sairei, Sonoda, Hiroyuki, Tanizawa, Kazunori, Yamamoto, Tatsuyoshi, Yamaoka, Mariko   +9 more
core   +1 more source