Results 11 to 20 of about 741,582 (71)

Experience of Idursulfase Beta Administration in the Child with Mucopolysaccharidosis Type II: Clinical Case [PDF]

Вопросы современной педиатрии, 2020
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare hereditary lysosomal storage disease associated with iduronate-2-sulfatase deficiency.
Tatiana K. Kruchina, Konstantin V. Bruchikov, Gennady A. Novik   +2 more
doaj   +2 more sources

Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus

Therapeutic Advances in Rare Disease
Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to glycosaminoglycan accumulation.
Anna Kulpanovich
doaj   +2 more sources

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet

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

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

JIMD Reports, Volume 62, Issue 1, Page 9-14, November 2021., 2021
Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with idursulfase, but because the enzyme cannot cross the ...
Kazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, Takashi Hamazaki, Sairei So, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato   +8 more
wiley   +1 more source

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

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

BMC Medical Genomics, 2021
Background This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome ...
Alla Nikolaevna Semyachkina, Elena Yurievna Voskoboeva, Ekaterina Alexandrovna Nikolaeva, Ekaterina Yurievna Zakharova   +3 more
doaj   +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

Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor

Molecular Genetics and Metabolism Reports, 2020
The efficacy of enzyme replacement therapy (ERT) for lysosomal storage diseases (LSDs) possibly depends on the cellular uptake of recombinant lysosomal enzymes (LEs), and it is known that cation-independent mannose 6-phosphate receptor (CI-M6PR) on the ...
Minori Kanzaki, Takahiro Tsukimura, Yasunori Chiba, Hitoshi Sakuraba, Tadayasu Togawa   +4 more
doaj   +1 more source

Active immunotherapy and alternative therapeutic modalities for Alzheimer's disease

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 6, Issue 1, 2020., 2020
Abstract As knowledge of Alzheimer's disease (AD) progression improves, the field has recognized the need to diversify the pipeline, broaden strategies and approaches to therapies, as well as delivery mechanisms. A better understanding of the earliest biological processes of AD/dementia would help inform drug target selection.
Stacie Weninger, Bjorn Sperling, Robert Alexander, Magnus Ivarsson, Fiona M. Menzies, Peter Powchik, Christopher J. Weber, C. Anthony Altar, Ronald G. Crystal, Stephen J. Haggarty, Jeanne Loring, Lisa J. Bain, Maria C. Carrillo   +12 more
wiley   +1 more source

Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies

BioMed Research International, Volume 2020, Issue 1, 2020., 2020
Purpose. Mucopolysaccharidoses (MPS) are group of inherited lysosomal storage diseases caused by mutations of enzymes involved in catalyzing different glycosaminoglycans (GAGs). MPS I and MPS II exhibit both somatic and neurological symptoms with a relatively high disease incidence.
Haiyan Nan, Chanbum Park, Sungho Maeng, Valeria D′Argenio   +3 more
wiley   +1 more source