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1دورية أكاديمية
المؤلفون: Schwartz, John C., Farrell, Colin P.Aff2, Aff3, Freimanis, Graham, Sewell, Andrew K., Phillips, John D., Hammond, John A.Aff1, IDs00251024013557_cor6
المصدر: Immunogenetics. :1-20
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2دورية أكاديمية
المؤلفون: Balwani, Manisha, Naik, Hetanshi, Overbey, Jessica R, Bonkovsky, Herbert L, Bissell, D Montgomery, Wang, Bruce, Phillips, John D, Desnick, Robert J, Anderson, Karl E
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Liver Disease, Digestive Diseases, Rare Diseases, Hematology, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Erythropoietic protoporphyria, X -linked protoporphyria, Photosensitivity, Clinical trial, Iron, ALAS2, 5-aminolevulinate synthase 2, DSMB, Data and Safety Monitoring Board, EPP, erythropoietic protoporphyria, FECH, ferrochelatase, IRE, iron-responsive element, IRP, IRE binding proteins, QoL, Quality of Life, X-linked protoporphyria, XLP, X linked protoporphyria, ePPIX, erythrocyte protoporphyrin, Biochemistry and Cell Biology, Genetics, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/415867ds
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3دورية أكاديمية
المؤلفون: Tonna, Joseph E.Aff1, Aff2, Pierce, Jan, Brintz, Benjamin J., Bardsley, Tyler, Hatton, Nathan, Lewis, Giavonni, Phillips, John D., Skidmore, Chloe R., Selzman, Craig H.Aff10, IDs1287902308856y_cor9
المصدر: BMC Infectious Diseases. 23(1)
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4دورية أكاديمية
المؤلفون: Naik, Hetanshi, Overbey, Jessica R, Montgomery, Guy H, Winkel, Gary, Balwani, Manisha, Anderson, Karl E, Bissell, D Montgomery, Bonkovsky, Herbert L, Phillips, John D, Wang, Bruce, McGuire, Brendan, Keel, Siobán, Levy, Cynthia, Erwin, Angelika, Desnick, Robert J
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(3)
مصطلحات موضوعية: Humans, Porphyria, Acute Intermittent, Fatigue, Heme, Severity of Illness Index, Longitudinal Studies, Depression, Anxiety, Quality of Life, Adolescent, Adult, Aged, Middle Aged, Female, Male, Young Adult, Sleep Wake Disorders, Patient Reported Outcome Measures, PROMIS, acute intermittent porphyria, patient-reported outcomes, quality of life, Genetics, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/21d45429
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5دورية أكاديمية
المؤلفون: Naik, Hetanshi, Overbey, Jessica R, Desnick, Robert J, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Phillips, John D, Wang, Bruce, Singal, Ashwani, Balwani, Manisha
المصدر: JIMD reports. 50(1)
مصطلحات موضوعية: Health Services and Systems, Health Sciences, Clinical Research, Brain Disorders, Pain Research, PROMIS, erythropoietic proto, porphyria, quality of life, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5bq8x1pp
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6دورية أكاديمية
المؤلفون: Miljkovic, Marisa, Seguin, Alexandra, Jia, Xuan, Cox, James E., Catrow, Jonathan Leon, Bergonia, Hector, Phillips, John D., Stephens, W. Zac, Ward, Diane M.
المصدر: In Journal of Biological Chemistry
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7دورية أكاديمية
المؤلفون: Yien, Yvette Y, Shi, Jiahai, Chen, Caiyong, Cheung, Jesmine TM, Grillo, Anthony S, Shrestha, Rishna, Li, Liangtao, Zhang, Xuedi, Kafina, Martin D, Kingsley, Paul D, King, Matthew J, Ablain, Julien, Li, Hojun, Zon, Leonard I, Palis, James, Burke, Martin D, Bauer, Daniel E, Orkin, Stuart H, Koehler, Carla M, Phillips, John D, Kaplan, Jerry, Ward, Diane M, Lodish, Harvey F, Paw, Barry H
المصدر: Journal of Biological Chemistry. 293(51)
مصطلحات موضوعية: Nutrition, Digestive Diseases, Hematology, 1.1 Normal biological development and functioning, Underpinning research, Blood, Animals, Erythroid Cells, Erythropoiesis, Erythropoietin, Ferrochelatase, HEK293 Cells, Heme, Humans, Iron, Membrane Proteins, Mice, Mitochondria, Mitochondrial Membranes, Mitochondrial Proteins, Protein Transport, heme, iron metabolism, cell metabolism, erythrocyte, erythropoiesis, red blood cell, Chemical Sciences, Biological Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology
URL الوصول: https://escholarship.org/uc/item/0qr1j5bw
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8دورية أكاديمية
المؤلفون: Farrell, Colin P. *, Nicolas, Gäel *, Desnick, Robert J., Parker, Charles J., Lamoril, Jerome, Gouya, Laurent, Karim, Zoubida, Tchernitchko, Dimitri, Chan, Brenden, Puy, Herve, Phillips, John D. *
المصدر: In Blood Advances 8 February 2022 6(3):760-766
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9دورية أكاديمية
المؤلفون: Barton, James C, McLaren, Christine E, Chen, Wen-Pin, Ramm, Grant A, Anderson, Gregory J, Powell, Lawrie W, Subramaniam, V Nathan, Adams, Paul C, Phatak, Pradyumna D, Gurrin, Lyle C, Phillips, John D, Parker, Charles J, Emond, Mary J, McLaren, Gordon D
المصدر: Annals of hepatology. 17(5)
مصطلحات موضوعية: Acyltransferases: genetics, Adult, Age Factors, Alcohol Drinking: adverse effects, epidemiology, Australia: epidemiology, Comorbidity, Cross-Sectional Studies, Diabetes Mellitus: epidemiology, Female, Genetic Predisposition to Disease, Hemochromatosis: diagnosis, epidemiology, genetics, therapy, Hemochromatosis Protein: genetics, Homozygote, Humans, Liver Cirrhosis: epidemiology, genetics, pathology, Male, Middle Aged, Mutation, Phenotype, Phlebotomy, Polymorphism, Single Nucleotide, Prevalence, Risk Assessment, Risk Factors, United States: epidemiology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5b6307dt
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10دورية أكاديمية
المؤلفون: Balwani, Manisha, Wang, Bruce, Anderson, Karl E, Bloomer, Joseph R, Bissell, D Montgomery, Bonkovsky, Herbert L, Phillips, John D, Desnick, Robert J, Network, for the Porphyrias Consortium of the Rare Diseases Clinical Research
المصدر: Hepatology. 66(4)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Neurodegenerative, Digestive Diseases, Liver Disease, Hematology, Management of diseases and conditions, 7.3 Management and decision making, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Disease Management, Humans, Porphyrias, Hepatic, Porphyrias Consortium of the Rare Diseases Clinical Research Network, Medical Biochemistry and Metabolomics, Immunology, Gastroenterology & Hepatology, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/46z200nh