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1دورية أكاديمية
المؤلفون: Khan, Ranjha, Oskouian, Babak, Lee, Joanna, Hodgin, Jeffrey, Yang, Yingbao, Tassew, Gizachew, Saba, Julie
المصدر: International Journal of Molecular Sciences. 24(21)
مصطلحات موضوعية: AAV-SPL 2.0, Sgpl1, adeno-associated virus, gene therapy, inborn-error of metabolism, sphingolipid, sphingosine phosphate lyase insufficiency syndrome, Animals, Humans, Mice, Aldehyde-Lyases, Dependovirus, Lysophospholipids, Mice, Knockout, Parvovirinae, Phosphates, Sphingosine, Genetic Therapy
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9qg2t6vg
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2دورية أكاديمية
المؤلفون: Tastemel Ozturk, TugbaAff1, IDs00467022056565_cor1, Canpolat, Nur, Saygili, Seha, Bayrakci, Umut Selda, Soylemezoglu, Oguz, Ozaltin, FatihAff1, Aff5, Topaloglu, Rezan
المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 38(3):711-719
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3دورية أكاديمية
المؤلفون: Spohner, Anna, Jakobi, Katja, Trautmann, Sandra, Thomas, Dominique, Schumacher, Fabian, Kleuser, Burkhard, Lütjohann, Dieter, El-Hindi, Khadija, Grösch, Sabine, Pfeilschifter, Josef, Saba, Julie, Meyer Zu Heringdorf, Dagmar
المصدر: International Journal of Molecular Sciences. 22(19)
مصطلحات موضوعية: SGPL1, bile, ceramides, cholesterol, liver, sphingosine-1-phosphate, Aldehyde-Lyases, Animals, Bile, Cells, Cultured, Ceramides, Cholesterol, LDL, Gene Knockout Techniques, Hepatocytes, Homeostasis, Liver, Lysophospholipids, Mice, Mice, Knockout, Phenotype, Receptors, LDL, Sphingolipids, Sphingosine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0hp7b01r
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4دورية أكاديمية
المؤلفون: Zhao, Piming, Liu, Isaac, Hodgin, Jeffrey, Benke, Peter, Selva, Jeremy, Torta, Federico, Wenk, Markus, Endrizzi, James, West, Olivia, Ou, Weixing, Tang, Emily, Goh, Denise, Tay, Stacey, Yap, Hui-Kim, Loh, Alwin, Weaver, Nicole, Sullivan, Bonnie, Larson, Austin, Cooper, Megan, Alhasan, Khalid, Alangari, Abdullah, Salim, Suha, Gumus, Evren, Chen, Karin, Zenker, Martin, Hildebrandt, Friedhelm, Saba, Julie
المصدر: Journal of Inherited Metabolic Disease. 43(5)
مصطلحات موضوعية: SGPL1, SPL insufficiency syndrome, pyridoxal 5′-phosphate, sphingolipidosis, sphingosine phosphate lyase, sphingosine-1-phosphate, vitamin B6, Adrenal Insufficiency, Aldehyde-Lyases, Biomarkers, Dietary Supplements, Fibroblasts, Humans, Lymphopenia, Mutation, Nephrosis, Phosphates, Syndrome, Vitamin B 6
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0zr003cr
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5دورية أكاديمية
المؤلفون: Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters
المصدر: Frontiers in Immunology, Vol 14 (2023)
مصطلحات موضوعية: case report, ichthyosis, lymphopenia, steroid-resistant nephrotic syndrome (SRNS), SGPL1 gene mutation, STAT1, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, Rathi Prasad
المصدر: Endocrine Connections, Vol 11, Iss 8, Pp 1-13 (2022)
مصطلحات موضوعية: sphingosine-1-phosphate lyase, sgpl1, sphingolipids, primary adrenal insufficiency, primary gonadal insufficiency, primary hypothyroidism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Ranjha Khan, Babak Oskouian, Joanna Y. Lee, Jeffrey B. Hodgin, Yingbao Yang, Gizachew Tassew, Julie D. Saba
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 21, p 15560 (2023)
مصطلحات موضوعية: sphingosine phosphate lyase insufficiency syndrome, Sgpl1, sphingolipid, gene therapy, AAV-SPL 2.0, adeno-associated virus, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Saba, Julie
المصدر: Journal of Lipid Research. 60(3)
مصطلحات موضوعية: SGPL1, sphingolipids, sphingosine phosphate lyase insufficiency syndrome, sphingosine-1-phosphate, Aldehyde-Lyases, Animals, Disease, Humans, Phosphates
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5j25h8x0
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9دورية أكاديمية
المؤلفون: Siying Yang, Yonghua He, Jianhua Zhou, Huiqing Yuan, Liru Qiu
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: steroid-resistant nephrotic syndrome, proteinuria, SGPL1 gene mutation, clinical phenotype, genotype, Pediatrics, RJ1-570
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Shah Alam, Sumaiya Yasmeen Afsar, Maya Anik Wolter, Luisa Michelle Volk, Daniel Nicolae Mitroi, Dagmar Meyer zu Heringdorf, Gerhild van Echten-Deckert
المصدر: Cells, Vol 12, Iss 14, p 1844 (2023)
مصطلحات موضوعية: sphingosine 1-phosphate (S1P), S1P-lyase (SGPL1), astrogliosis, P2Y1 receptor (P2Y1R), neuroinflammation, NLRP3 inflammasome, Cytology, QH573-671
وصف الملف: electronic resource