Results 51 to 60 of about 854 (165)
Hunter Syndrome: Clinical Case of Early Diagnostics
Педиатрическая фармакология, 2020 Background. This clinical case of orphan disease can be interesting for its early diagnostics which is essential for timely specific therapy and sufficient dynamic observation. Clinical case description.
Natalya N. Martynovich +4 more
doaj +1 more source
New hope for an old battle: Fighting Hunter disease
, 2022 Journal of Paediatrics and Child Health, Volume 58, Issue 2, Page 360-360, February 2022.
Antonie S Daher, Ana M Martins
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2022 Mucopolysaccharidosis type II (MPS II) is a multisystemic lysosomal storage disorder caused by deficiency of the iduronate 2-sulfatase enzyme. Currently, enzyme replacement therapy (ERT) with recombinant idursulfase is the main treatment available to ...
Vincenza Gragnaniello +7 more
doaj +1 more source
Вопросы современной педиатрии, 2023 Background. Mucopolysaccharidosis type II (MPS II) is a rare hereditary disease from the group of lysosomal storage diseases, with progressive course. There is effective enzyme replacement therapy (ERT) for this disease, it prevents the development of ...
Natalia V. Zhurkova +7 more
doaj +1 more source
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 +6 more
doaj +1 more source
Development of the multi-attribute Adolescent Health Utility Measure (AHUM)
Health and Quality of Life Outcomes, 2012 Objective Obtain utilities (preferences) for a generalizable set of health states experienced by older children and adolescents who receive therapy for chronic health conditions. Methods A health state classification system, the Adolescent Health Utility
Beusterien Kathleen M +3 more
doaj +1 more source
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 +6 more
doaj +1 more source
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 +7 more
doaj +1 more source
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 +4 more
doaj +1 more source
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome) [PDF]
, 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).
Ah-Ra Ko +16 more
core +1 more source