Results 21 to 30 of about 1,275 (171)

Two-year follow-up after drug desensitization in mucopolysaccharidosis [PDF]

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis (MPS) type 1 S and type 2 are rare lysosomal storage disorders characterized by impaired enzyme production, resulting in glycosaminoglycans accumulation within lysosomes.
Federico Spataro, Roberto Ria, Nada Chaoul, Antonio Giovanni Solimando, Vanessa Desantis, Angelo Vacca, Danilo Di Bona, Attilio Di Girolamo, Luigi Macchia   +8 more
doaj   +2 more sources

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]

Genetics and Molecular Biology, 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Roberto Giugliani, Martha Luz Solano Villarreal, C. Araceli Arellano Valdez, Antonieta Mahfoud Hawilou, Norberto Guelbert, Luz Norela Correa Garzón, Ana Maria Martins, Angelina Acosta, Juan Francisco Cabello, Aída Lemes, Mara Lucia Schmitz Ferreira Santos, Hernán Amartino   +11 more
doaj   +7 more sources

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome) [PDF]

Cochrane Database of Systematic Reviews, 2010
Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. The glycosaminoglycans accumulate within tissues affecting multiple organs and physiologic systems. The clinical manifestations include
Edina MK da Silva, Edina MK da Silva, Maria Wany Louzada Strufaldi, Régis B Andriolo, Laercio A Silva   +4 more
openaire   +9 more sources

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts [PDF]

International Journal of Neonatal Screening
Mucopolysaccharidosis (MPS) type II, or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Glycosaminoglycan (GAG) accumulation leads to progressive multisystemic involvement, with coarse facial ...
Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Can Ficicioglu   +6 more
doaj   +2 more sources

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry [PDF]

Orphanet Journal of Rare Diseases, 2017
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available
Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A. H. Whiteman   +14 more
doaj   +3 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

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

Idursulfase

Drugs in R & D, 2006
europepmc   +3 more sources

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy. [PDF]

J Inherit Metab Dis
Abstract Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS).
Kampmann C, Lampe C, Wiethoff CM, Arash-Kaps L, Mengel E, Reinke J, Beck M, Hennermann JB, Abu-Tair T.   +8 more
europepmc   +2 more sources

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case

Вопросы современной педиатрии, 2020
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency.
Tatiana K. Kruchina, Konstantin V. Bruchikov, Gennady A. Novik   +2 more
doaj   +1 more source