المؤلفون: Macedo, Nuno Lopes, Maria L. Maia, Cátia S. Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria F. Coutinho, Sandra Alves, M. Fátima

المصدر: Biomedicines; Volume 11; Issue 6; Pages: 1699

مصطلحات موضوعية: lysosomal storage diseases, mucopolysaccharidoses, glycosaminoglycans, leukocytes, T cells, invariant natural killer T (iNKT) cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::41e39644c69733fbfeb596a3b38e679cTest

المؤلفون: Wenping Li, Stephanie M. Cologna

المصدر: Mol Omics

مصطلحات موضوعية: Lysosomal Storage Diseases, Proteomics, Genetics, Humans, Lysosomes, Molecular Biology, Biochemistry, Biomarkers, Mass Spectrometry, Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b515f2f33472c03bc20640ebbd63420Test
https://pubmed.ncbi.nlm.nih.gov/35343995Test

المؤلفون: Hiroki Tanaka, Daisuke Tsuji, Ryosuke Watanabe, Yukiya Ohnishi, Shindai Kitaguchi, Ryuto Nakae, Hiromi Teramoto, Jun Tsukimoto, Yuto Horii, Kohji Itoh

المصدر: Journal of Inherited Metabolic Disease. 45:1191-1202

مصطلحات موضوعية: Lysosomal Storage Diseases, Mice, Autophagy, Genetics, Animals, Lysosomes, SNARE Proteins, Endocytosis, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ba4f2396644c6f080f57a44c2a20a4Test
https://doi.org/10.1002/jimd.12558Test

المؤلفون: Gregory A, Grabowski, Pramod K, Mistry

المصدر: Molecular Genetics and Metabolism. 137:81-91

مصطلحات موضوعية: Lysosomal Storage Diseases, Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Humans, Fabry Disease, Mucopolysaccharidoses, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a48a5b4f0723f995954f59e48c0f94Test
https://doi.org/10.1016/j.ymgme.2022.07.014Test

المؤلفون: Woutje M. Berdowski, Herma C. van der Linde, Marjolein Breur, Nynke Oosterhof, Shanice Beerepoot, Leslie Sanderson, Lieve I. Wijnands, Patrick de Jong, Elisa Tsai-Meu-Chong, Walter de Valk, Moniek de Witte, Wilfred F. J. van IJcken, Jeroen Demmers, Marjo S. van der Knaap, Marianna Bugiani, Nicole I. Wolf, Tjakko J. van Ham

المساهمون: Pediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Clinical Genetics, Cell biology, Biochemistry, Integrative Neurophysiology

المصدر: Acta Neuropathologica 144 (2022) 2
Acta Neuropathologica, 144(2), 211-239. Springer Verlag
Acta Neuropathologica, 144, 211-239. SPRINGER
Acta Neuropathologica, 144(2), 211-239. Springer-Verlag
Berdowski, W M, van der Linde, H C, Breur, M, Oosterhof, N, Beerepoot, S, Sanderson, L, Wijnands, L I, de Jong, P, Tsai-Meu-Chong, E, de Valk, W, de Witte, M, van IJcken, W F J, Demmers, J, van der Knaap, M S, Bugiani, M, Wolf, N I & van Ham, T J 2022, ' Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy ', Acta Neuropathologica, vol. 144, no. 2, pp. 211-239 . https://doi.org/10.1007/s00401-022-02440-5Test
Acta Neuropathologica, 144(2), 211-239

مصطلحات موضوعية: Adult, EXPRESSION, AXONAL SPHEROIDS, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, SDG 3 - Good Health and Well-being, Leukoencephalopathies, REVEALS, Animals, Humans, BRAIN, Zebrafish models, Zebrafish, ALSP, HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY, RECEPTOR, Receptor Protein-Tyrosine Kinases, Neurodegenerative Diseases, Leukodystrophy, Zebrafish Proteins, CSF1R, PIGMENTED GLIA ALSP, NERVOUS-SYSTEM, Lysosomal Storage Diseases, Phenotype, EARLY MACROPHAGES, Astrocytes, Neurology (clinical), Microglia, Demyelinating Diseases, INDIVIDUAL OLIGODENDROCYTES

وصف الملف: text/html; application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddadef2bdc7da915da1bb7314cdad89fTest
https://doi.org/10.1007/s00401-022-02440-5Test

المؤلفون: Lauren, Jimenez-Kurlander, Christine N, Duncan

المصدر: Hematology/Oncology Clinics of North America. 36:853-864

مصطلحات موضوعية: Lysosomal Storage Diseases, Oncology, Hematopoietic Stem Cell Transplantation, Humans, Genetic Therapy, Hematology, Nervous System Diseases, Child, Hematopoietic Stem Cells

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa649ea4ca337e3b9862bfaf2e45c40Test
https://doi.org/10.1016/j.hoc.2022.05.003Test

المؤلفون: Gaijie, Li, Liping, Tian, Yuanfang, Guo, Yulin, Li, Meng, Sun, Hui, Zou

المصدر: Zhejiang Da Xue Xue Bao Yi Xue Ban

مصطلحات موضوعية: Glycogen Storage Disease Type II, Infant, Newborn, Infant, alpha-Glucosidases, Galactosylceramides, General Medicine, Leukodystrophy, Globoid Cell, Lysosomal Storage Diseases, Iduronidase, Neonatal Screening, Sphingomyelin Phosphodiesterase, Tandem Mass Spectrometry, alpha-Galactosidase, Humans, Fabry Disease, Glucosylceramidase, Child, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::992f421e57e0f9d6c7292e4f4d3581dfTest
https://doi.org/10.3724/zdxbyxb-2022-0095Test

المؤلفون: Valeria Graceffa

المصدر: Current Gene Therapy. 22:191-213

مصطلحات موضوعية: business.industry, Genetic enhancement, Cell- and Tissue-Based Therapy, Gene Transfer Techniques, Genetic Therapy, Transfection, Gene delivery, medicine.disease, Bioinformatics, Immune tolerance, Lysosomal Storage Diseases, Transplantation, Immune system, Graft-versus-host disease, Drug Discovery, Genetics, Humans, Molecular Medicine, Medicine, Stem cell, Lysosomes, business, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54efbf3b46034f44317362df3035c90fTest
https://doi.org/10.2174/1566523221666210728141924Test

المؤلفون: Alexei Gorelik, Katalin Illes, Khanh Huy Bui, Bhushan Nagar

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(33)

مصطلحات موضوعية: Lysosomal Storage Diseases, Multidisciplinary, Mannosephosphates, Mucolipidoses, Catalytic Domain, Humans, Transferases (Other Substituted Phosphate Groups), Lysosomes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6576bfa0883dd76bb33319796a341eTest
https://pubmed.ncbi.nlm.nih.gov/35939698Test

المؤلفون: Melike Ersoy, Hamide Pişkinpaşa

المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:519-527

مصطلحات موضوعية: Lysosomal Storage Diseases, Gaucher Disease, Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Quality of Life, Fabry Disease, Humans, Enzyme Replacement Therapy, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf60621a6b200eb9a146c79500e9f0fTest
https://doi.org/10.1515/jpem-2021-0664Test