المؤلفون: Kishnani, Priya S

المصدر: Molecular genetics and metabolism; vol 117, iss 2, 66-83; 1096-7192

مصطلحات الفهرس: Animals, Humans, Lysosomal Storage Diseases, Hydrolases, Recombinant Proteins, Immune Tolerance, Enzyme Replacement Therapy, Enzyme replacement therapy, Immune tolerance, Inborn errors of metabolism, Lysosomal storage diseases, Neutralizing antibodies, Orphan drugs, Rare diseases, Orphan Drug, Rare Diseases, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Inflammatory and immune system, Clinical Sciences, Genetics & Heredity, article

URL: https://escholarship.org/uc/item/59n944htTest
https://escholarship.orgTest/

المؤلفون: Kishnani, Priya S

المصدر: Molecular genetics and metabolism; vol 117, iss 2, 66-83; 1096-7192

مصطلحات الفهرس: Animals, Humans, Lysosomal Storage Diseases, Hydrolases, Recombinant Proteins, Immune Tolerance, Enzyme Replacement Therapy, Enzyme replacement therapy, Immune tolerance, Inborn errors of metabolism, Lysosomal storage diseases, Neutralizing antibodies, Orphan drugs, Rare diseases, Orphan Drug, Rare Diseases, 5.1 Pharmaceuticals, Inflammatory and Immune System, Genetics & Heredity, Clinical Sciences, article

URL: https://escholarship.org/uc/item/59n944htTest
https://escholarship.orgTest/

المؤلفون: Schwab, Marisa E

المصدر: Orphanet journal of rare diseases; vol 17, iss 1, 25; 1750-1172

مصطلحات الفهرس: Humans, Glycogen Storage Disease Type II, Lysosomal Storage Diseases, Fetal Therapies, Attitude, Parents, Pregnancy, Female, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Surveys and Questionnaires, Clinical trial, ELSI, Enzyme replacement therapy, Fetal therapy, Gene therapy, Lysosomal storage disease, Mucopolysaccharidosis, Patient attitudes, ELSI (ethical, legal and social implications), Clinical Trials and Supportive Activities, Genetics, Rare Diseases, Clinical Research, Orphan Drug, Pediatric, Digestive Diseases, Good Health and Well Being, Other Medical and Health Sciences, Genetics & Heredity, article

URL: https://escholarship.org/uc/item/79c7w0mvTest
https://escholarship.orgTest/

عناروين إضافية: Dépistage de lysosphingolipides urinaires par spectrométrie de masse en tandem pour les maladies lysosomales

مصطلحات الفهرس: Sphingolipidosis, Lysosomal storage diseases, Screening, Urine, Tandem mass spectrometry, Ultra-high-performance liquid chromatography, Biomarker, Lysosphingolipides, Sphingolipidoses, Lysosphingolipid, Maladies lysosomales, Dépistage, Spectrométrie de masse en tandem, Chromatographie liquide en ultra-haute performance, Biomarqueur, Mémoire

URL: http://hdl.handle.net/11143/19114Test

المؤلفون: Logan, Todd

المصدر: Cell; vol 184, iss 18, 4651-4668.e25; 0092-8674

مصطلحات الفهرس: Brain, Microglia, Endosomes, Lysosomes, Macrophages, Animals, Mice, Inbred C57BL, Transgenic, Humans, Lysosomal Storage Diseases, Gliosis, Inflammation, Nerve Degeneration, Lipofuscin, Receptors, Transferrin, Membrane Glycoproteins, Bone Morphogenetic Proteins, Immunologic, Biological Products, Tissue Distribution, Phenotype, Female, Male, Lipid Metabolism, Induced Pluripotent Stem Cells, Frontotemporal Dementia, Progranulins, GBA, LBPA, galectin-3, lipidomics, lipids, lipofuscin, lysobisphosphatidic acid, lysosome, metabolomics, neurodegenerative disease, Brain Disorders, Alzheimer's Disease Related Dementias (ADRD), Dementia, Acquired Cognitive Impairment, Neurodegenerative, Rare Diseases, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Frontotemporal Dementia (FTD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Developmental Biology, article

URL: https://escholarship.org/uc/item/5d1190fpTest
https://escholarship.orgTest/

مصطلحات الفهرس: Lysosomal storage diseases, Endocannabinoids, Treatment, artículo de revisión

URL: http://hdl.handle.net/10261/267717Test
Publisher's version
http://dx.doi.org/10.1186/s13023-021-01779-4Test
Sí

المؤلفون: Showalter, Megan R

المصدر: International journal of molecular sciences; vol 21, iss 21, E8067; 1422-0067

مصطلحات الفهرس: Lysosomes, Animals, Humans, Lysosomal Storage Diseases, Lysophospholipids, Monoglycerides, bis(monoacylglycero)phosphate, lipidomics, lysobisphophatidic acid, lysosome, Brain Disorders, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Other Chemical Sciences, Genetics, Other Biological Sciences, Chemical Physics, article

URL: https://escholarship.org/uc/item/7j45s3hnTest
https://escholarship.orgTest/

المؤلفون: Olson, Linda J

المصدر: Communications biology; vol 3, iss 1, 498; 2399-3642

مصطلحات الفهرس: Lysosomes, Humans, Lysosomal Storage Diseases, Hydroxyl Radical, Cations, Mannose, Receptor, IGF Type 2, Ligands, Microscopy, Electron, Crystallography, X-Ray, Protein Footprinting, Surface Plasmon Resonance, Allosteric Regulation, Binding Sites, Protein Conformation, Neurosciences, Rare Diseases, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, article

URL: https://escholarship.org/uc/item/5qn103h7Test
https://escholarship.orgTest/

مصطلحات الفهرس: Cathepsins, Mucopolysaccharidoses, Lysosomal storage diseases, Therapy, artículo

URL: http://hdl.handle.net/10261/209444Test
https://doi.org/10.3390/cells9040979Test
Publisher’s version
https://doi.org/10.3390/cells9040979Test
Sí

المؤلفون: Nicoli, Elena-Raluca

المصدر: American Journal of Human Genetics; vol 104, iss 6

مصطلحات الفهرس: ClC-7 antiporter, chloroquine, cutaneous albinism, lysosomal hyperacidity, lysosomal membrane counterion, lysosomal pH, lysosomal storage disease, oculocutaneous albinism, Acids, Albinism, Animals, Chloride Channels, Female, Fibroblasts, Genetic Variation, Humans, Hydrogen-Ion Concentration, Infant, Lysosomal Storage Diseases, Lysosomes, Male, Mice, Oocytes, Xenopus laevis, article

URL: https://escholarship.org/uc/item/0xp9k0xsTest
https://escholarship.orgTest/