Results 131 to 140 of about 1,666 (186)
Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease. [PDF]
PharmaceuticsGuerrero-Vargas JM +6 more
europepmc +1 more source
Advancing CNS Therapeutics: Enhancing Neurological Disorders with Nanoparticle-Based Gene and Enzyme Replacement Therapies. [PDF]
Int J NanomedicineLiu S, Li H, Xi S, Zhang Y, Sun T.
europepmc +1 more source
New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]
J Lipid ResSidorina A +6 more
europepmc +1 more source
Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]
Ther Innov Regul SciFarmer C +5 more
europepmc +1 more source
The Purification And Characterization Of A Gm1 Ganglioside Beta-Galactosidase From Normal Feline Brain And Liver. [PDF]
, 1977 Mole, Jacqueline Anderson
core +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Neuropediatrics, 1984
Gangliosidoses are very rare neurological diseases based on specific enzyme defects. They constitute models for the disruption of specific metabolic pathways and cellular functions with the ultimate consequence of manifest clinical symptoms. The investigation of the various steps involved in the generation of a given syndrome can therefore lead to a ...
M E, Schwab, F, Vassella
exaly +3 more sources
Gangliosidoses are very rare neurological diseases based on specific enzyme defects. They constitute models for the disruption of specific metabolic pathways and cellular functions with the ultimate consequence of manifest clinical symptoms. The investigation of the various steps involved in the generation of a given syndrome can therefore lead to a ...
M E, Schwab, F, Vassella
exaly +3 more sources
Morphology of the Gangliosidoses
Neuropediatrics, 1984GM1 and GM2 gangliosidoses are progressive neurodegenerative diseases which accumulate intralysosomal gangliosides--and to a lesser extent oligosaccharides--chiefly in the central and peripheral nervous system owing to deficiencies of beta-galactosidase and hexosaminidases A or/and B, respectively.
H H Goebel
exaly +3 more sources
Serial 1H-MRS in GM2 gangliosidoses
European Journal of Pediatrics, 2007GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A. Clinically, the disease is marked by a relentless encephalopathy. Proton magnetic resonance spectroscopy (1H-MRS) provides in-vivo measurement of various brain metabolites including N-acetyl aspartate+N-acetyl aspartate glutamate (
Christopher Janson, Dah-Jyuu Wang
exaly +3 more sources