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1دورية أكاديمية
المؤلفون: Murtaza S. Nagree, Jitka Rybova, Annie Kleynerman, Carissa J. Ahrenhoerster, Jennifer T. Saville, TianMeng Xu, Maxwell Bachochin, William M. McKillop, Michael W. Lawlor, Alexey V. Pshezhetsky, Olena Isaeva, Matthew D. Budde, Maria Fuller, Jeffrey A. Medin
المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-20 (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2399-3642
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2دورية أكاديمية
المؤلفون: Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin
المصدر: Biomolecules, Vol 13, Iss 2, p 274 (2023)
مصطلحات موضوعية: ceramide, lysosomal storage disorder, SMA-PME, Farber disease, lipogranulomatosis, acid ceramidase, Microbiology, QR1-502
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar, S Ronan Foley, Maria Fuller, Daniel H Fowler, Jeffrey A Medin
المصدر: EMBO Molecular Medicine, Vol 14, Iss 4, Pp n/a-n/a (2022)
مصطلحات موضوعية: gene therapy, lentivirus, lysosomal storage disorders, T cells, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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المصدر: Journal of Inherited Metabolic Disease 45(6), 1175-1190. (2022)
مصطلحات موضوعية: Inflammation, Farber disease, skin, Adipogenesis, ceramides, Acid Ceramidase, acid ceramidase, Ceramides, adipogenesis, macrophages, Mice, Disease Models, Animal, Farber Lipogranulomatosis, Genetics, Animals, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Patricia V. Turner, Fabian P.S. Yu, Aron M. Geurts, Jitka Rybova, Everett Tate, William M. McKillop, Jakub Sikora, Salvatore Molino, Jeffrey A. Medin, Shauna A. Rasmussen
المصدر: Laboratory Investigation. 99:1572-1592
مصطلحات موضوعية: Liver Cirrhosis, 0301 basic medicine, Ceramide, Pathology, medicine.medical_specialty, Transcription, Genetic, Hepatosplenomegaly, Biology, Pathology and Forensic Medicine, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Animals, Molecular Biology, Inflammation, Liver injury, Sphingolipids, Farber disease, Cell Death, Liver cell, Cell Biology, Lipid Metabolism, medicine.disease, Sphingolipid, Acid Ceramidase, Disease Models, Animal, Farber Lipogranulomatosis, 030104 developmental biology, medicine.anatomical_structure, Liver, chemistry, 030220 oncology & carcinogenesis, Hepatocyte, Hepatocytes, medicine.symptom, Hepatomegaly
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المساهمون: Institut Fédératif de Biologie (IFB) - Hôpital Purpan, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Clinica Chimica Acta
Clinica Chimica Acta, Elsevier, 2019, 495, pp.457-466. ⟨10.1016/j.cca.2019.05.020⟩مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Ceramide, Membrane lipids, [SDV]Life Sciences [q-bio], Biochemistry (medical), Clinical Biochemistry, General Medicine, Biology, Ceramides, Biochemistry, 3. Good health, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Enzyme, Biosynthesis, chemistry, Metabolic Diseases, 030220 oncology & carcinogenesis, Animals, Humans, Ceramide metabolism
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المؤلفون: Michael Volny, Robert J. Desnick, Vladimír Havlíček, Befekadu Asfaw, Martin Strohalm, Lenka Kryspinova, Ladislav Kuchar, Jitka Rybova, Helena Faltyskova, Helena Hulkova, Lukas Krasny, Karel Lemr, Robert Dobrovolny, Jana Ledvinová
المصدر: Analytical and Bioanalytical Chemistry. 407:2283-2291
مصطلحات موضوعية: Ceramide, Globotriaosylceramide, Kidney, Biochemistry, Mass Spectrometry, Mass spectrometry imaging, Analytical Chemistry, Mice, chemistry.chemical_compound, medicine, Lysosomal storage disease, Animals, Humans, Mice, Knockout, Sphingolipids, Chemistry, Immunochemistry, medicine.disease, Molecular biology, Fabry disease, Sphingolipid, Disease Models, Animal, medicine.anatomical_structure, alpha-Galactosidase, Fabry Disease, lipids (amino acids, peptides, and proteins), Sphingomyelin
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المؤلفون: Jitka Rybova, Ladislav Kuchař, Robert Dobrovolný, Jakub Sikora, Jana Ledvinová
المصدر: Journal of inherited metabolic disease. 41(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Neurogenesis, Induced Pluripotent Stem Cells, Hepatosplenomegaly, Iduronate Sulfatase, Biology, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Genetics, medicine, Humans, Cell Lineage, Mucopolysaccharidosis type II, Genetics (clinical), Cells, Cultured, Glycosaminoglycans, Mucopolysaccharidosis II, Neurons, Oligodendrocyte Precursor Cells, biology.organism_classification, Phenotype, Sendai virus, Cell biology, Oligodendroglia, 030104 developmental biology, Astrocytes, Female, medicine.symptom, Stem cell, Lysosomes, Reprogramming, Neuroglia, 030217 neurology & neurosurgery
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المؤلفون: Jitka Rybova, Jana Ledvinová, Befekadu Asfaw, Ladislav Kuchař
مصطلحات موضوعية: 0301 basic medicine, Lysosomal storage disorders, Biology, Tandem mass spectrometry, Bioinformatics, medicine.disease, Sphingolipid, Biological materials, Clinical Practice, 03 medical and health sciences, 030104 developmental biology, Metabolomics, Biological significance, Sphingolipidoses, medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c59b23efa687364939e1e91be043e729
https://doi.org/10.1016/bs.acc.2016.06.004