Results 51 to 60 of about 783 (129)

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

Frontiers in Immunology, 2020
A 3.5 year old Hispanic female presented with signs and symptoms concerning for MPS II (Hunter Syndrome). The diagnosis of MPS II was confirmed by enzyme and molecular testing.
Daniel C. Julien, Kara Woolgar, Laura Pollard, Holly Miller, Ankit Desai, Kristin Lindstrom, Priya S. Kishnani   +6 more
doaj   +1 more source

EFFICACY AND SAFETY OF ENZYME REPLACEMENT THERAPY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS TYPE I, II, AND VI: A SINGLE-CENTER COHORT STUDY

Вопросы современной педиатрии, 2018
Background. There are limited data on the efficacy of long-term enzyme replacement therapy (ERT) in children with mucopolysaccharidosis (MPS).Objective. Our aim was to study the efficacy and safety of long-term ERT in children with MPS type I, II, and VI.
Liliia A. Osipova, Ludmila M. Kuzenkova, Leyla S. Namazova-Baranova, Anait K. Gevorkyan, Tatiana V. Podkletnova, Nikolay A. Mayanskiy, Grigoriy V. Revunenkov, Nato D. Vashakmadze   +7 more
doaj   +1 more source

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry

Orphanet Journal of Rare Diseases, 2021
Background Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation, caused by a deficiency of iduronate-2-sulfatase (I2S).
Marie Julianne C. Racoma, Maria Kristina Karizza B. Calibag, Cynthia P. Cordero, Mary Ann R. Abacan, Mary Anne D. Chiong   +4 more
doaj   +1 more source

Development of the multi-attribute Adolescent Health Utility Measure (AHUM)

Health and Quality of Life Outcomes, 2012
Objective Obtain utilities (preferences) for a generalizable set of health states experienced by older children and adolescents who receive therapy for chronic health conditions. Methods A health state classification system, the Adolescent Health Utility
Beusterien Kathleen M, Yeung Jean-Ezra, Pang Francis, Brazier John   +3 more
doaj   +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

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain, Maya Vaishnaw, Pramod. K. Mistry   +2 more
wiley   +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

Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II

Вопросы современной педиатрии, 2023
Background. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive disease caused by lysosomal enzyme iduronate-2-sulfatase deficiency resulting in progressive glycosaminoglycans (GAG) accumulation in tissues (dermatan sulfate ...
Nato D. Vashakmadze, Nataliya V. Zhurkova, Ekaterina Yu. Zakharova, Ludmila K. Mikhaylova, Marina A. Babaykina   +4 more
doaj   +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