Results 31 to 40 of about 1,275 (171)
Вопросы современной педиатрии, 2021 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze +6 more
doaj +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
Engineering Reports, 2020 Recombinant iduronate‐2‐sulfatase (idursulfase) is available for the treatment of mucopolysaccharidosis II (MPS II). The effectiveness of this glycoprotein may depend on post‐translational modifications such as glycosylation and sialylation during ...
Antony R. Garcia +3 more
doaj +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
Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]
, 2017 Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia +6 more
core +6 more sources
Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey. [PDF]
JIMD RepAbstract Mucopolysaccharidosis II (MPS II) is a rare, life‐limiting lysosomal storage disease caused by reduced iduronate‐2‐sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15 years of data from ...
Link B, Botha J, Giugliani R.
europepmc +2 more sources
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
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
The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation [PDF]
, 2014 The adsorption of blood proteins, serum albumin (BSA), immunoglobulin G (IgG) and fibrinogen (FGN), onto model SiO2 planar surfaces coated with poly-l-lysine/heparin multilayers (PLL/HEP) has been investigated by means of ellipsometry and quartz crystal ...
Ingela Wiklund +5 more
core +2 more sources