Results 41 to 50 of about 854 (165)
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
Advances in therapies for neurological lysosomal storage disorders
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023 Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley +1 more source
Accelerated approval drug labels often lack information for clinical decision‐making
Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 43, Issue 4, Page 300-304, April 2023., 2023 Abstract Study objective We evaluated US Food and Drug Administration labels for drugs approved under the accelerated approval pathway and whether these labels contained in sufficient information regarding their accelerated approval. Design Retrospective, observational, cohort study.
Jeromie Ballreich +5 more
wiley +1 more source
The Inflation Reduction Act: A boon for the generic and biosimilar industry
Journal of Clinical Pharmacy and Therapeutics, Volume 47, Issue 11, Page 1738-1751, November 2022., 2022 The Inflation Reduction Act gives a significant boost to generics and biosimilars!Soon lowered out‐of‐pocket costBiosimilars promoted and adopted Abstract What is Known and Objective After more than a year of negotiation, a $740 billion climate and health care bill known as The Inflation Reduction Act (IRA) became law on 16 August 2022.
Sarfaraz K. Niazi
wiley +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 +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 185, Issue 11, Page 3350-3358, November 2021., 2021 Abstract From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects.
Hilary J. Vernon, Irini Manoli
wiley +1 more source
Comparative study of idursulfase beta and idursulfase in vitro and in vivo [PDF]
Journal of Human Genetics, 2016 Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome.
Kim, Chihwa +7 more
openaire +2 more sources
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