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Lysosomal Storage Diseases

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. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders.
Alroy, Joseph, Lyons, Jeremiah A.
openaire   +4 more sources

Biomarkers in Lysosomal Storage Diseases [PDF]

Diseases, 2016
A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have ...
Joaquin Bobillo Lobato, Maria Jiménez Hidalgo, Luis M. Jiménez Jiménez   +2 more
openaire   +3 more sources

Lipid Structure Matters in Lysosomal Storage Disease. [PDF]

J Lipid Res, 2023
Sandhoff R.
europepmc   +1 more source

Nanoreporter Identifies Lysosomal Storage Disease Lipid Accumulation Intracranially. [PDF]

Nano Lett, 2023
Antman-Passig M, Yaari Z, Goerzen D, Parikh R, Chatman S, Komer LE, Chen C, Grabarnik E, Mathieu M, Haimovitz-Friedman A, Heller DA.   +10 more
europepmc   +1 more source

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease. [PDF]

Mol Ther, 2022
Monaco A, Maffia V, Sorrentino NC, Sambri I, Ezhova Y, Giuliano T, Cacace V, Nusco E, De Risi M, De Leonibus E, Schrader T, Klärner FG, Bitan G, Fraldi A.   +13 more
europepmc   +1 more source

β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy. [PDF]

JIMD Rep, 2022
Pedersen JJ, Duno M, Wibrand F, Hammer C, Krag T, Vissing J.   +5 more
europepmc   +1 more source

Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study. [PDF]

Front Vet Sci, 2021
Tamura S, Tamura Y, Nakamoto Y, Hasegawa D, Tsuboi M, Uchida K, Yabuki A, Yamato O.   +7 more
europepmc   +1 more source

Potential Treatment of Lysosomal Storage Disease through Modulation of the Mitochondrial-Lysosomal Axis. [PDF]

Cells, 2021
Kuk MU, Lee YH, Kim JW, Hwang SY, Park JT, Park SC.   +5 more
europepmc   +1 more source

HexA-Enzyme Coated Polymer Nanoparticles for the Development of a Drug-Delivery System in the Treatment of Sandhoff Lysosomal Storage Disease. [PDF]

J Funct Biomater, 2022
Calzoni E, Cesaretti A, Montegiove N, Di Michele A, Pellegrino RM, Emiliani C.   +5 more
europepmc   +1 more source

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study. [PDF]

Orphanet J Rare Dis, 2021
Terai H, Tamai K, Hoshino M, Toyoda H, Suzuki A, Takahashi S, Hori Y, Yabu A, Nakamura H.   +8 more
europepmc   +1 more source