Results 21 to 30 of about 741,582 (71)

Glycosaminoglycan Storage Disorders: A Review

Biochemistry Research International, Volume 2012, Issue 1, 2012., 2012
Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by increased excretion in urine of partially degraded GAGs which ultimately result in progressive cell, tissue ...
Maria Francisca Coutinho, Lúcia Lacerda, Sandra Alves, Laura Alaniz   +3 more
wiley   +1 more source

Intrathecal idursulfase‐IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single‐arm, open‐label, phase 2/3 substudy and extension

JIMD Reports, Volume 67, Issue 2, March 2026.
Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian   +14 more
wiley   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age

Molecular Genetics and Metabolism Reports
Neuronopathic mucopolysaccharidosis type II (MPS II) is a severe lysosomal storage disorder associated with early-onset developmental regression and a poor prognosis.
Azuma Ikari, Asahito Hama, Torayuki Okuyama   +2 more
doaj   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

I rivali di Aristofane

, 2002
Partendo dalla recente pubblicazione di un volume curato da D. Harvey e J. Wilkins (The rivals of Aristophanes. Studies in Athenian Old Comedy, London 2000), Simone Beta discute sull'importanza dello studio dei frammenti comici per una conoscenza ...
BETA, SIMONE, Simone Beta
core   +2 more sources

Intracerebroventricular Enzyme Replacement Therapy in Patients with Neuropathic Form of Mucopolysaccharidosis Type II: to Help Practicing Physician

Вопросы современной педиатрии
Mucopolysaccharidosis type II (Hunter syndrome, MPS II) is a rare hereditary disease from the group of hereditary metabolic diseases. There are neuropathic and non-neuropathic forms of this disease. The neuropathic form is most common and leads to severe
Nataliya V. Zhurkova, Nato D. Vashakmadze, Georgiy A. Karkashadze, Elena V. Kaytukova   +3 more
doaj   +1 more source

Interim results of the first stage of a multicenter open multi-cohort study of the safety, pharmacokinetics, pharmacodynamics and efficacy of veranafusp alfa in adult patients with mucopolysaccharidosis type II

Фармация и фармакология (Пятигорск)
This article presents the interim results of the first stage (administration of the drug to patients aged ≥18 years with mucopolysaccharidosis type II) of a multicenter open multi-cohort phase II-III study (IDB-MPS-II-III), the aim of which was to assess
E. A. Lukina, R. V. Ponomarev, S. V. Trishina, E. S. Gabitova, N. D. Vashakmadze, G. A. Karkashadze, L. S. Namazova-Baranova   +6 more
doaj   +1 more source

Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening

International Journal of Neonatal Screening
Enzyme replacement therapy (ERT) for central nervous system symptoms and newborn screening (NBS) is available in Japan for patients with mucopolysaccharidosis type II (MPS II).
Yuki Ueda, Shinsuke Hirabayashi, Masayuki Miura, Satoshi Yamada, Sachiko Nakakubo, Midori Nakajima, Takeru Goto, Jutaro Abe, Yukayo Terashita, Atsushi Manabe, Torayuki Okuyama, Kiyoshi Egawa   +11 more
doaj   +1 more source

A incorporação de tecnologias em saúde para doenças raras no SUS

Jornal de Assistência Farmacêutica e Farmacoeconomia
Introdução: Desde a vigência da Política Nacional de Doenças Raras, publicada pela Portaria GM/MS 199/2014 observa-se um crescente interesse do Ministério da Saúde do Brasil na estruturação de sua rede de cuidado no campo das doenças raras, bem como na ...
Tacila Pires Mega, Artur Felipe Siqueira de Brito   +1 more
doaj   +1 more source