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1دورية أكاديمية
المؤلفون: Stepien, Karolina M.Aff1, IDs13023023027961_cor1, Broomfield, Alexander, Cole, Duncan, Deegan, Patrick B., Forshaw-Hulme, Stuart, Hughes, Derralynn, Jovanovic, Ana, Morris, Liz, Muir, Alison, Ramaswami, Uma
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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2دورية أكاديمية
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3دورية أكاديمية
المؤلفون: Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B, Enns, Gregory M, Jones, Simon A, Kane, John P, Stock, Eveline O, Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S, Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A, Sharma, Reena, Twelves, Chris, Whitley, Chester B, Quinn, Anthony G
المصدر: Journal of hepatology. 61(5)
مصطلحات موضوعية: Liver, Humans, Wolman Disease, Alanine Transaminase, Aspartate Aminotransferases, Lipids, Recombinant Proteins, Drug Administration Schedule, Adult, Middle Aged, Female, Male, Sterol Esterase, Young Adult, Dyslipidemia, Enzyme replacement, Fatty liver, Hepatomegaly, Lysosomal storage, Gastroenterology & Hepatology, Clinical Sciences, Public Health and Health Services
URL الوصول: https://escholarship.org/uc/item/7jr1844c
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4دورية أكاديمية
المؤلفون: Balwani, Manisha, Breen, Catherine, Enns, Gregory M, Deegan, Patrick B, Honzík, Tomas, Jones, Simon, Kane, John P, Malinova, Vera, Sharma, Reena, Stock, Eveline O, Valayannopoulos, Vassili, Wraith, J Edmond, Burg, Jennifer, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G
المصدر: Hepatology. 58(3)
مصطلحات موضوعية: Rare Diseases, Clinical Research, Clinical Trials and Supportive Activities, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adult, Alanine Transaminase, Aspartate Aminotransferases, Cholesterol Ester Storage Disease, Cholesterol, HDL, Cholesterol, LDL, Dose-Response Relationship, Drug, Female, Humans, Liver, Male, Middle Aged, Recombinant Proteins, Sterol Esterase, Treatment Outcome, Triglycerides, Medical Biochemistry and Metabolomics, Clinical Sciences, Immunology, Gastroenterology & Hepatology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4b21j37t
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5دورية
المؤلفون: Wallace, Eric L, Goker-Alpan, Ozlem, Wilcox, William R, Holida, Myrl, Bernat, John, Longo, Nicola, Linhart, Aleš, Hughes, Derralynn A, Hopkin, Robert J, Tøndel, Camilla, Langeveld, Mirjam, Giraldo, Pilar, Pisani, Antonio, Germain, Dominique Paul, Mehta, Ankit, Deegan, Patrick B, Molnar, Maria Judit, Ortiz, Damara, Jovanovic, Ana, Muriello, Michael, Barshop, Bruce A, Kimonis, Virginia, Vujkovac, Bojan, Nowak, Albina, Geberhiwot, Tarekegn, Kantola, Ilkka, Knoll, Jasmine, Waldek, Stephen, Nedd, Khan, Karaa, Amel, Brill-Almon, Einat, Alon, Sari, Chertkoff, Raul, Rocco, Rossana, Sakov, Anat, Warnock, David G
المصدر: Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 6 p520-530, 11p
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
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10
المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
المساهمون: Cox, Timothy M [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Cox, Timothy M. [0000-0002-4951-9941]
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Splenectomy, Disease, Cohort Studies, Lysosomal storage diseases, medicine, Humans, Disease-modifying therapies, GAUCHERITE, Pharmacology (medical), Substrate reduction therapy, Prospective Studies, Bone pain, Genetics (clinical), Retrospective Studies, Gaucher Disease, business.industry, Research, Cohort, Genetic disorder, General Medicine, Enzyme replacement therapy, medicine.disease, Orthopedic surgery, Medicine, Glucosylceramidase, Nervous System Diseases, medicine.symptom, business
وصف الملف: application/pdf; application/zip; text/xml