Results 41 to 50 of about 1,275 (171)

Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre

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, Simona D'Amore, Niamh Finnegan, Derralynn Hughes, Masoud Kazemi, Lysosomal Disorders Team, Royal Free London NHS Foundation Trust   +6 more
wiley   +1 more source

Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease

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, Greg de Hart, Brian R. Vuillemenot, Derek Kennedy, Don Musson, Charles A. O’Neill, Martin L. Katz, Joshua W. Henshaw   +7 more
wiley   +1 more source

Oral adverse effects: drug‐induced tongue disorders

Oral Diseases, Volume 27, Issue 6, Page 1528-1541, September 2021., 2021
Abstract Objectives Due to a worldwide increase in drug consumption, oral healthcare professionals are frequently confronted with patients using one or more drugs. A large number of drugs can be accompanied with adverse drug reactions in the orofacial region, amongst others of the tongue.
Yalda Aziz, Willem Maria Hubertus Rademacher, Atty Hielema, Scott Bradley Patton Wishaw, Denise Edwina van Diermen, Jan de Lange, Arjan Vissink, Frederik Reinder Rozema   +7 more
wiley   +1 more source

Application of a policy framework for the public funding of drugs for rare diseases [PDF]

, 2014
BACKGROUND: In many countries, decisions about the public funding of drugs are preferentially based on the results of randomized trials. For truly rare diseases, such trials are not typically available, and approaches by public payers are highly variable.
Christine Seager, D Coyle, Doug Coyle, E Winquist, Eric Winquist, Gerald A. Evans, Janet Martin, Joe T. R. Clarke, N Daniels, R Cookson, Winnie Chan   +10 more
core   +1 more source

The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]

PLoS ONE, 2014
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska   +3 more
doaj   +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, Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, Vera G. Kalugina   +7 more
doaj   +1 more source

Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients

Clinical Case Reports, Volume 9, Issue 3, Page 1704-1710, March 2021., 2021
Patients with MPS present with a plethora of dental manifestations, accompanying behavioral difficulties and medical comorbidities which often dictate the need for treatment in specialist centers. Prevention is therefore mandatory in this high‐risk group.
Lorna Hirst, Suhaym Mubeen, Gehan Abou‐Ameira, Anupam Chakrapani   +3 more
wiley   +1 more source

Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study

Annals of Clinical and Translational Neurology, Volume 8, Issue 1, Page 66-80, January 2021., 2021
Abstract Objective Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA), resulting in severe motor and cognitive dysfunction. This phase 1/2 study evaluated the safety and efficacy of intravenous (IV) recombinant human ASA (rhASA; HGT‐1111, previously known as ...
Christine í Dali, Samuel Groeschel, Mihai Moldovan, Mohamed H. Farah, Ingeborg Krägeloh‐Mann, Margaret Wasilewski, Jing Li, Norman Barton, Christian Krarup   +8 more
wiley   +1 more source

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years [PDF]

, 2014
BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate.
Agata Fiumara, Alessandra Zanetti, Andrea Borgo, Angelica Rampazzo, Anna Chiara Frigo, Antonia Pascarella, Daniela Concolino, Elena Procopio, Francesca D’Avanzo, Maurizio Scarpa, Nicoletta Gasparotto, Rosella Tomanin, Rossella Parini   +12 more
core   +1 more source

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +1 more source