Results 21 to 30 of about 156,351 (339)
Journal of Inborn Errors of Metabolism and Screening, 2014 Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules.
Joseph Alroy DVM, DACVP +1 more
doaj +4 more sources
Translational Science of Rare Diseases, 2016 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
C. Ferreira, W. Gahl
semanticscholar +6 more sources
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases
Frontiers in Molecular Biosciences, 2020 There are over 50 lysosomal hydrolase deficiencies, many of which cause neurodegeneration, cognitive decline and death. In recent years, a number of broad innovative therapies have been proposed and investigated for lysosomal storage diseases (LSDs ...
Jacob M. Favret +3 more
doaj +2 more sources
Clinical implementation of gene panel testing for lysosomal storage diseases [PDF]
Molecular Genetics & Genomic Medicine, 2018 The diagnostic workup in patients with a clinical suspicion of lysosomal storage diseases (LSD) is often difficult due to the variability in the clinical phenotype. The gold standard for diagnosis of LSDs consists of enzymatic testing.
Alexander Gheldof +11 more
openalex +2 more sources
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 ...
Angela Sun
openalex +3 more sources
Chemical Science, 2018 We review pharmacological chaperones used in lysosomal storage diseases, emphasizing medicinal chemistry approaches and mechanisms of action.
David M. Pereira +2 more
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Lysosomal storage diseases: difficulties in differintial diagnosis
Фундаментальная и клиническая медицина, 2019 Inherited metabolic disorders represent a heterogeneous group of diseases which are difficult to be diagnosed in pediatric and therapeutic practice. Theirclinical symptoms are non-specific and common.
T. Y. Pomytkina, A. Y. Davydova
doaj +2 more sources
Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases. [PDF]
Mol Ther, 2023 Heller G +3 more
europepmc +3 more sources
A systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases. [PDF]
Cost Eff Resour Alloc, 2022 Katsigianni EI, Petrou P.
europepmc +3 more sources
Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study [PDF]
JIMD Rep, 2023 Awada N, Holcik M.
europepmc +3 more sources