-
1دورية أكاديمية
المؤلفون: Aksoylar, S., Akcan, M., Cartı, O., Siviş, Z.O., Özek, G., Uçar, S.K., Canda, E.
مصطلحات موضوعية: MNGIE, hematopoietic stem cell transplantation, treosulfan
العلاقة: Pediatric Blood and Cancer; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/90052Test; https://doi.org/10.1002/pbc.30334Test
-
2دورية أكاديمية
المؤلفون: Yoldaş, Çelik, M., Canda, E., Yazıcı, H., Erdem, F., Özkaya, P.Y., Sahbudak, Z.B., Uçar, S.K.
مصطلحات موضوعية: COVID-19, fabry, Gaucher, inherited metabolic diseases, lysosomal storage diseases, SARS-CoV-2, coronavac, favipiravir, immunoglobulin, steroid, tenofovir, adolescent, adult, anosmia, Article, child, clinical article, coronavirus disease 2019, diabetes mellitus, Fabry disease, female, Gaucher disease, headache, hospitalization, human, hypertension, inflammatory disease, intensive care unit, leukopenia, liver disease
العلاقة: Turkish Archives of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.5152/TurkArchPediatr.2023.22233Test; https://search.trdizin.gov.tr/yayin/detay/1179221Test; https://hdl.handle.net/11454/87415Test; 58; 262; 267; 1179221; 2-s2.0-85160523823
الإتاحة: https://doi.org/10.5152/TurkArchPediatr.2023.22233Test
https://hdl.handle.net/11454/87415Test
https://search.trdizin.gov.tr/yayin/detay/1179221Test -
3دورية أكاديمية
المؤلفون: Özek, G., Aksoylar, S., Uçar, S.K., Canda, E., Akcan, M., Cartı, O., Siviş, Z.O.
مصطلحات موضوعية: hematopoietic stem cell transplantation, MNGIE, treosulfan
العلاقة: Pediatric Blood and Cancer; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/pbc.30334Test; https://hdl.handle.net/11454/83073Test; 2-s2.0-85152465361
-
4دورية أكاديمية
المؤلفون: Canda, E., Yoldaş, Çelik, M., Yazıcı, H., Erdem, F., Özkaya, P.Y., Sahbudak, Z.B., Uçar, S.K.
مصطلحات موضوعية: fabry, COVID-19, Gaucher, inherited metabolic diseases, lysosomal storage diseases, SARS-CoV-2, coronavac, favipiravir, immunoglobulin, steroid, tenofovir, adolescent, adult, anosmia, Article, child, clinical article, coronavirus disease 2019, diabetes mellitus, Fabry disease, female, Gaucher disease, headache, hospitalization, human, hypertension, inflammatory disease, intensive care unit, leukopenia, liver disease
العلاقة: Turkish Archives of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://search.trdizin.gov.tr/yayin/detay/1179221Test; https://doi.org/10.5152/TurkArchPediatr.2023.22233Test; https://hdl.handle.net/11454/91166Test; 58; 262; 267
الإتاحة: https://doi.org/10.5152/TurkArchPediatr.2023.22233Test
https://hdl.handle.net/11454/91166Test
https://search.trdizin.gov.tr/yayin/detay/1179221Test -
5دورية أكاديمية
المؤلفون: Grünert, S.C., Derks, T.G., Mundy, H., Dalton, R.N., Donadieu, J., Hofbauer, P., Jones, N., Uçar, S.K., LaFreniere, J., Contreras, E.L., Pendyal, S., Rossi, A, Schneider, B., Spiegel, R., Stepien, K.M., Wesol-Kucharska, D., Veiga-da-Cunha, M., Wortmann, S.B.
المصدر: Molecular Genetics and Metabolism, 141, 3, pp. 108144
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders Paediatrics
الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108144Test
https://repository.ubn.ru.nl/handle/2066/305091Test -
6دورية أكاديميةGlycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
المؤلفون: Yazıcı, H., Çopur, O., Canbay, E., Durmaz, B., Canda, E., Ucar, S.K., Coker, M.
مصطلحات موضوعية: Mucopolysaccharidosis, Inflammation, Paraoxonase, aryldialkylphosphatase, catalase, chitotriosidase, cytokine, dermatan sulfate, gamma interferon, glutathione peroxidase, glycosaminoglycan, immunoglobulin enhancer binding protein, interleukin 1alpha, interleukin 1beta, interleukin 6, superoxide dismutase, adolescent, adult, antioxidant activity, Article, child, clinical article, controlled study, enzyme deficiency, enzyme replacement, erythrocyte, female, heart disease, human, Hunter syndrome
العلاقة: Cytokine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/92746Test; https://doi.org/10.1016/j.cyto.2023.156410Test; 173
-
7دورية أكاديمية
المؤلفون: Grünert, S.C., Derks, TGJ, Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M.D., Eiroa, H., Finezilber, Y., Moura de Souza, C.F., Garcia-Jiménez, M.C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L.H., Hörbe-Blindt, A., Horka, L.M., Huemer, M., Uçar, S.K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E.M., Maiorana, A., McCandless, S.E., Mitchell, J.J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P.Q., Regier, D., Rossi, A., Santer, R., Schuman, H.C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K.M., Tal, G., Tanšek, M.Z., Torkar, A.D., Tchan, M., Thyagu, S., Schrier Vergano, S.A., Vucko, E., Weinhold, N., Zsidegh, P., Wortmann, S.B.
المصدر: Genetics in medicine, vol. 24, no. 8, pp. 1781-1788
مصطلحات موضوعية: Adolescent, Adult, Benzhydryl Compounds, Child, Preschool, Glucosides, Glycogen Storage Disease Type I/drug therapy, Glycogen Storage Disease Type I/pathology, Granulocyte Colony-Stimulating Factor/therapeutic use, Humans, Infant, Newborn, Neutropenia/drug therapy, Retrospective Studies, Surveys and Questionnaires, Young Adult, GSD Ib, Glycogen storage disease type Ib, Neutropenia, SGLT2 inhibitors, SLC37A4
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35503103; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_860BBE94D7A38; https://serval.unil.ch/notice/serval:BIB_860BBE94D7A3Test; urn:issn:1098-3600; https://serval.unil.ch/resource/serval:BIB_860BBE94D7A3.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_860BBE94D7A38Test
الإتاحة: https://doi.org/10.1016/j.gim.2022.04.001Test
https://serval.unil.ch/notice/serval:BIB_860BBE94D7A3Test
https://serval.unil.ch/resource/serval:BIB_860BBE94D7A3.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_860BBE94D7A38Test -
8دورية أكاديمية
المؤلفون: Canda E., Yazici H., Altınok Y.A., Ucar S.K., Coker M.
مصطلحات موضوعية: uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical Article, consanguineous marriage, differential diagnosis, enzyme activity, aspartate aminotransferase, genetic analysis, genetic association, human, alanine aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic screening, glucose urine level
العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79419Test; https://doi.org/10.1002/jmd2.12263Test; 63; 25; 28
-
9دورية أكاديمية
المؤلفون: Yazici H., Canda E., Altınok Y.A., Ucar S.K., Coker M.
مصطلحات موضوعية: alanine aminotransferase, aspartate aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical article, consanguineous marriage, differential diagnosis, enzyme activity, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic analysis, genetic association, genetic screening, glucose urine level, head circumference
العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/jmd2.12263Test; https://hdl.handle.net/11454/79419Test; 63; 25; 28; 2-s2.0-85123420633
-
10دورية أكاديمية
المؤلفون: Hecht M., Kipper K., Antunes N.J., Fairbanks L.D., Levene M., Uçar S.K., Schaefer A.
مصطلحات موضوعية: EE-TP, liquid chromatography-mass spectrometry, mass spectrometry, 2’-deoxyuridine, Erythrocyte encapsulated thymidine phosphorylase, LC, Method validation, Mitochondrial neurogastrointestinal encephalomyopathy, MS/MS, Thymidine, deoxyuridine derivative, accuracy, analytic method, Article, calibration, erythrocyte, clinical Article, controlled study, enzyme replacement, human, limit of detection, limit of quantitation, MNGIE syndrome, pharmacodynamics, plasma, protein analysis, protein stability, proteomics, quality control, urinalysis
العلاقة: Journal of Clinical Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79920Test; https://doi.org/10.3390/jcm9030788Test
النص الكامل