Results 31 to 40 of about 793,688 (114)

Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS) [PDF]

, 2022
BACKGROUND: Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S), respectively.
Nettis, Eustachio, Di Bona, Danilo, Rollo, Valentina, Macchia, Luigi, Spataro, Federico, Tummolo, Albina, Rossi, Maria Pia, Viggiani, Fabio, Caiaffa, Maria Filomena, Macchia, Domenico Giorgio, Satriano, Francesco, Fischetto, Rita, Sabba', Carlo, Sabba’, Carlo, Giliberti, Lucia, Suppressa, Patrizia   +15 more
core   +1 more source

A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT

, 2023
Background Norm-based scores used to assess cognitive ability have clinical value when describing functioning of patients with neuronopathic disorders compared with unaffected, same-age peers.
Deirdre Mladsi, Karen S. Yee, Christine Barnett, William G. Kronenberger, Costel Chirila, Eric Davenport   +5 more
core   +1 more source

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

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

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

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

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.

, 2014
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs).
Sohn, YB, Lee, J, Ko, AR, Sohn, JM, Jin, DK, Kwun, Y, Lee, JY, Yook, YJ, Chang, MS, Kim, CH, Chung, YK   +10 more
core   +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

[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)]

, 2021
Disponible en: https://www.sap.org.ar/docs/publicaciones/archivosarg/2021/v119n1a20.pdfAbstract in English, Spanish Enzyme replacement therapy with idursulfase decreases morbidity and improves quality of life of patients with mucopolysaccharidosis ii ...
Bustamante, Lucrecia., Garavaglia, Luciano., Et al., Amartino, Hernán.   +3 more
core   +1 more source