Results 21 to 30 of about 36,163 (246)

A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

Orphanet Journal of Rare Diseases, 2017
Background The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences ...
Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb   +6 more
doaj   +1 more source

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up

Molecular Genetics and Metabolism Reports, 2017
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase
Mahoko Furujo, Motomichi Kosuga, Torayuki Okuyama   +2 more
doaj   +1 more source

Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation

Heliyon, 2021
Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome.
Luis M. Carbajal-Rodríguez, Martín Pérez-García, Raymundo Rodríguez-Herrera, Haydeé Salazar Rosales, Alberto Olaya-Vargas   +4 more
doaj   +1 more source

Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq

Advanced Medical Journal, 2023
Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step,
Chenar Omer Ali Al-Jaf, Bakir Rahim, Khalid Hama Salih, Jamal Ahmad Rasheed, Adnan Mohammed Hasan   +4 more
doaj   +1 more source

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]

Romanian Journal of Pediatrics, 2017
Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj   +1 more source

Identification of active natural products that induce lysosomal biogenesis by lysosome-based screening and biological evaluation

Heliyon, 2022
Lysosomal biogenesis is an essential adaptive process by which lysosomes exert their function in maintaining cellular homeostasis. Defects in lysosomal enzymes and functions lead to lysosome-related diseases, including lysosomal storage diseases and ...
Xiao Ding, Xu Yang, Yueqin Zhao, Yinyuan Wang, Jimin Fei, Zhenpeng Niu, Xianxiang Dong, Xuenan Wang, Biao Liu, Hongmei Li, Xiaojiang Hao, Yuhan Zhao   +11 more
doaj   +1 more source

Lysosomal storage disease overview [PDF]

Annals of Translational Medicine, 2018
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
openaire   +2 more sources

A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders

Cells, 2021
Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
doaj   +1 more source

The rapidly evolving view of lysosomal storage diseases

EMBO Molecular Medicine, 2021
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti, Diego L Medina, Andrea Ballabio   +2 more
doaj   +1 more source

Neuroinflammatory paradigms in lysosomal storage diseases

Frontiers in Neuroscience, 2015
Lysosomal storage diseases (LSDs) include approximately 70 distinct disorders that collectively account for 14% of all inherited metabolic diseases. LSDs are caused by mutations in various enzymes/proteins that disrupt lysosomal function, which impairs ...
Megan Elizabeth Bosch, Tammy eKielian
doaj   +1 more source