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Lysosomal Storage Disease [PDF]
Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
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Lysosomal storage diseases [PDF]
Journal of Veterinary and Animal Sciences, 2021 Lysosomes play a pivotal role in cellular processes through an active interplay of enzymes, lysosomal membrane proteins, and cytosolic proteins. Lysosomal storage diseases are a group of inherited and acquired disorders.
Smitha Rose Georgy
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Effect of disease progression on CSF-directed AAV gene therapy in a large brain animal model of lysosomal storage disease [PDF]
Molecular Therapy: Methods & Clinical DevelopmentThe lysosomal storage disease alpha-mannosidosis (AMD) is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter +6 more
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Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial—Lysosomal Axis [PDF]
Cells, 2021 Lysosomal storage disease (LSD) is an inherited metabolic disorder caused by enzyme deficiency in lysosomes. Some treatments for LSD can slow progression, but there are no effective treatments to restore the pathological phenotype to normal levels ...
Myeong Uk Kuk +5 more
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Lysosomal storage disease overview. [PDF]
Ann Transl Med, 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 ...
Sun A.
europepmc +4 more sources
Lipid Structure Matters in Lysosomal Storage Disease [PDF]
Journal of Lipid Research, 2023 Roger Sandhoff
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Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney [PDF]
Nature Communications, 2018 Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative ...
Beatrice Paola Festa +12 more
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Citation: 'lysosomal storage disease' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10907 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for
Rajkumar V, Dumpa V.
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Molecular Genetics and Metabolism Reports, 2020 Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we
Natasha Zeid +6 more
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Orphanet Journal of Rare Diseases, 2021 Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman +2 more
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