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1كتاب
المؤلفون: Schuchman, Edward H., Desnick, Robert J.
المساهمون: Desnick, Robert J.
المصدر: Genetic Diversity among Jews. (1992) 104-118
مصطلحات موضوعية: Human genetics -- Religious aspects -- Judaism, Medicine -- Israel, Medical care -- Israel, Ethnic groups -- Israel, Sephardim -- Health and hygiene, Jews -- Medicine -- United States, Jews -- Science -- United States, Jews, Ethiopian -- Israel, Jews, Moroccan -- Israel
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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
الوصول الحر: https://escholarship.org/uc/item/415867dsTest
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3دورية أكاديمية
المؤلفون: Erwin, Angelika, Schreiber, Allison, Desnick, Robert
المصدر: Genetics in Medicine Open ; volume 2, page 100921 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.100921Test
https://api.elsevier.com/content/article/PII:S2949774424000670?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424000670?httpAccept=text/plainTest -
4كتاب
المؤلفون: Desnick, Robert J., Desnick, Robert J.
المصدر: Genetic Diseases among Ashkenazi Jews. (1979) 253-270
مصطلحات موضوعية: Jews -- Diseases -- Genetic aspects, Ashkenazim -- Diseases -- Genetic aspects, Medical genetics, Genetic disorders -- Treatment, Lysosomal storage diseases -- Treatment
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5دورية 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
الوصول الحر: https://escholarship.org/uc/item/21d45429Test
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6دورية 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
الوصول الحر: https://escholarship.org/uc/item/5bq8x1ppTest
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7دورية أكاديمية
المؤلفون: Chen, Yen-Hsi, Tian, Weihua, Yasuda, Makiko, Ye, Zilu, Song, Ming, Mandel, Ulla, Kristensen, Claus, Povolo, Lorenzo, Marques, André R A, Čaval, Tomislav, Heck, Albert J R, Sampaio, Julio Lopes, Johannes, Ludger, Tsukimura, Takahiro, Desnick, Robert, Vakhrushev, Sergey Y, Yang, Zhang, Clausen, Henrik
المساهمون: Afd Biomol.Mass Spect. and Proteomics, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics
مصطلحات موضوعية: bioengineering, enzyme replacement therapy, glycoengineering, glycoprotein therapeutics, lysosomal storage disease, Biotechnology, Biomedical Engineering, Histology
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Loggerenberg, Warren van, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Pierro, Elena Di, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
المساهمون: Tampere University, SIST, Internal medicine
مصطلحات موضوعية: 3121 Internal medicine
وصف الملف: fulltext
العلاقة: 10; 110; ORCID: /0000-0003-1561-6900/work/142932598; https://trepo.tuni.fi/handle/10024/153827Test; URN:NBN:fi:tuni-2023120810557
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.08.012Test
https://trepo.tuni.fi/handle/10024/153827Test -
9دورية أكاديمية
المؤلفون: van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C H, Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J, Garton, Michael, Roth, Frederick P
المصدر: van Loggerenberg , W , Sowlati-Hashjin , S , Weile , J , Hamilton , R , Chawla , A , Sheykhkarimli , D , Gebbia , M , Kishore , N , Frésard , L , Mustajoki , S , Pischik , E , Di Pierro , E , Barbaro , M , Floderus , Y , Schmitt , C , Gouya , L , Colavin , A , Nussbaum , R , Friesema , E C H , Kauppinen , R , To-Figueras , J , Aarsand , A K , Desnick , R J , Garton ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.08.012Test
https://pure.eur.nl/en/publications/d7031e3d-5d17-489c-810b-11e181ed78f9Test
https://pure.eur.nl/ws/files/101236844/PIIS0002929723002884.pdfTest
http://www.scopus.com/inward/record.url?scp=85173073443&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Chen, Yen Hsi, Tian, Weihua, Yasuda, Makiko, Ye, Zilu, Song, Ming, Mandel, Ulla, Kristensen, Claus, Povolo, Lorenzo, Marques, André R.A., Čaval, Tomislav, Heck, Albert J.R., Sampaio, Julio Lopes, Johannes, Ludger, Tsukimura, Takahiro, Desnick, Robert, Vakhrushev, Sergey Y., Yang, Zhang, Clausen, Henrik
المصدر: Chen , Y H , Tian , W , Yasuda , M , Ye , Z , Song , M , Mandel , U , Kristensen , C , Povolo , L , Marques , A R A , Čaval , T , Heck , A J R , Sampaio , J L , Johannes , L , Tsukimura , T , Desnick , R , Vakhrushev , S Y , Yang , Z & Clausen , H 2023 , ' A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution ' , Frontiers in Bioengineering ....
مصطلحات موضوعية: bioengineering, enzyme replacement therapy, glycoengineering, glycoprotein therapeutics, lysosomal storage disease
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3389/fbioe.2023.1128371Test
https://curis.ku.dk/portal/da/publications/a-universal-glycodesign-for-lysosomal-replacement-enzymes-to-improve-circulation-time-and-biodistributionTest(e2ec2595-8048-4cb0-9f27-3b91ee1f8cd3).html
https://curis.ku.dk/ws/files/344806703/fbioe_11_1128371.pdfTest