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Lysosomal Storage Disorders: Lysosomal Storage Disorders

Resumen/Descripción – provisto por la editorial

No disponible.

Palabras clave – provistas por la editorial

mucopolysaccharidosis IIIB; quantitative proteomics; NAGLU; lysosomes; Gaucher disease; bone involvement; enzyme replacement therapy; substrate reduction therapy; Osteoimmunology; RANK/RANKL; Osteopontin; MIP-1β; mucolipidosis II; sortilin; TGF-beta; cathepsin D; Fabry disease; alpha-galactosidase A; endocytosis; lysosome; IGF2R/M6P; clathrin; chloroquine; lysosomal diseases; precision medicine; pharmacological chaperones; gene therapy.; Pompe disease; lysosomal targeting; autophagy; gene therapy; muscle; satellite cells; rhGAA; glycogen; lysosomal α-glucosidase; GAA biomarker; Gaucher Disease; Wnt/β-catenin; Dkk1; Wnt3a; iPSC; neuronopathy; Krabbe disease; Twitcher mouse; psychosine; visual system; visual cortex; astrogliosis; mucopolysaccharidosis type I; Hurler syndrome; hematopoietic stem cell transplantations; animal models; experimental therapies; axon guidance; lysosomal storage disorders; neuronal circuit; α-galactosidase A; A4GALT; globotriaosylceramide (Gb3); globotriaosyl-sphingosine (lysoGb3); pharmacological chaperone therapy; exosomes; endocytic pathways; neurodegenerative disease; Parkinson disease; lysosomal storage disorder; viral vectors; newborn screening; variant interpretation; second tier test; tandem mass spectrometry; lyso-Gb3; dried blood spot; GLA gene; globotriaosylsphingosine; biomarkers

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Información

Tipo de recurso:

libros

ISBN electrónico

978-3-0365-1966-1

País de edición

Suiza