Results 41 to 50 of about 783 (129)
Internal Medicine Journal, Volume 51, Issue 10, Page 1580-1593, October 2021., 2021 Abstract This study aims to evaluate the impact of the COVID‐19 pandemic on the lysosomal disorders unit (LSDU) at Royal Free London NHS Foundation Trust (RFL), a highly specialised national service for diagnosis and management of adults with lysosomal storage disorders (LSD). Review of home care enzyme replacement therapy (ERT) and emergency care, and
Uma Ramaswami +6 more
wiley +1 more source
Clinical and Translational Science, Volume 14, Issue 5, Page 1810-1821, September 2021., 2021 Abstract Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an ultra‐rare pediatric neurodegenerative disorder characterized by deficiency of the lysosomal enzyme tripeptidyl peptidase‐1 (TPP1). In the absence of adequate TPP1, lysosomal storage material accumulation occurs in the central nervous system (CNS) accompanied by neurodegeneration and ...
Kevin Hammon +7 more
wiley +1 more source
Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II
Вопросы современной педиатрии, 2021 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S).
Julia G. Levina +7 more
doaj +1 more source
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
Corrigendum to “Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II” [PDF]
, 2023 Corrigendum to “Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis ...
Jones, Simon A. +14 more
core +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
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
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