المؤلفون: McFadden, Jason R., Tolete, Christina Deanne P., Huang, Yan, Macnamara, Ellen, Sept, David, Nesterova, Galina, Gahl, William A., Sackett, Dan L., Malicdan, May Christine V.

المصدر: Molecular Genetics and Metabolism Reports ; volume 36, page 100990 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2023.100990Test
https://api.elsevier.com/content/article/PII:S2214426923000368?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426923000368?httpAccept=text/plainTest

المؤلفون: Hohenfellner, Katharina, Elenberg, Ewa, Ariceta Iraola, Gema, Nesterova, Galina, Soliman, Neveen A., Topaloglu, Rezan, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Newborn screening, Infantile nephropathic cystinosis, Clinical course, CTNS -pathogenic variants, Newborn screening for cystinosis

وصف الملف: application/pdf

العلاقة: Cells; Vol. 11 (march 2022); https://ddd.uab.cat/record/258102Test; urn:10.3390/cells11071109; urn:oai:ddd.uab.cat:258102; urn:pmcid:PMC8997957; urn:pmc-uid:8997957; urn:pmid:35406673; urn:oai:pubmedcentral.nih.gov:8997957; urn:oai:egreta.uab.cat:publications/cd307f3a-791f-4b35-aff6-3629ad9f4356

الإتاحة: https://ddd.uab.cat/record/258102Test

المؤلفون: TOPALOĞLU, REZAN, Nesterova, Galina, Hohenfellner, Katharina, Ariceta, Gema, Elenberg, Ewa, Soliman, Neveen A.

العلاقة: b032ea2e-181e-415a-a209-137842310dba; https://avesis.hacettepe.edu.tr/publication/details/b032ea2e-181e-415a-a209-137842310dba/oaiTest

الإتاحة: https://doi.org/10.3390/cells11071109Test
https://avesis.hacettepe.edu.tr/publication/details/b032ea2e-181e-415a-a209-137842310dba/oaiTest

المؤلفون: Emma, Francesco, Nesterova, Galina, Langman, Craig, Labbé, Antoine, Cherqui, Stephanie, Goodyer, Paul, Janssen, Mirian C, Greco, Marcella, Topaloglu, Rezan, Elenberg, Ewa, Dohil, Ranjan, Trauner, Doris, Antignac, Corinne, Cochat, Pierre, Kaskel, Frederick, Servais, Aude, Wühl, Elke, Niaudet, Patrick, Hoff, William Van't, Gahl, William, Levtchenko, Elena

المصدر: Nephrology Dialysis Transplantation. 29(suppl_4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Rare Diseases, Pediatric, Child, Cystinosis, Fanconi Syndrome, Humans, Practice Guidelines as Topic, Societies, Medical, CTNS gene, cysteamine treatment, cystinosis, extra-renal complications, renal Fanconi syndrome, Urology & Nephrology, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0dv4v0ntTest

المؤلفون: Florenzano, Pablo, Jimenez, Macarena, Ferreira, Carlos R., Nesterova, Galina, Roberts, Mary Scott, Tella, Sri Harsha, Fernandez de Castro, Luis, Gafni, Rachel I., Wolf, Myles, Jüppner, Harald, Gales, Barbara, Wesseling-Perry, Katherine, Markovich, Daniela, Gahl, William A., Salusky, Isidro B., Collins, Michael T.

المساهمون: National Institute of Dental and Craniofacial Research, National Human Genome Research Institute, U.S. Public Health Service, National Institute of Diabetes and Digestive and Kidney Diseases, National Center for Advancing Translational Sciences, Pontificia Universidad Catolica de Chile, The Oscar & Elsa Braun Foundation

المصدر: Journal of the American Society of Nephrology ; volume 31, issue 9, page 2184-2192 ; ISSN 1046-6673 1533-3450

الإتاحة: https://doi.org/10.1681/asn.2019111172Test

المؤلفون: Hohenfellner, Katharina, Rauch, Frank, Ariceta, Gema, Awan, Atif, Bacchetta, Justine, Bergmann, Carsten, Bechtold, Susanne, Cassidy, Noelle, Deschenes, Geroges, Elenberg, Ewa, Gahl, William A., Greil, Oliver, Harms, Erik, Herzig, Nadine, Hoppe, Bernd, Koeppl, Christian, Lewis, Malcolm A., Levtchenko, Elena, Nesterova, Galina, Santos, Fernando, Schlingmann, Karl P., Servais, Aude, Soliman, Neveen A., Steidle, Guenther, Sweeney, Clodagh, Treikauskas, Ulrike, Topaloglu, Rezan, Tsygin, Alexey, Veys, Koenraad, v. Vigier, Rodo, Zustin, Jozef, Haffner, Dieter

المساهمون: Cystinosis Foundation

المصدر: Journal of Inherited Metabolic Disease ; volume 42, issue 5, page 1019-1029 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12134Test

المؤلفون: Nazarova, Larisa, Golikov, Nikita, Nazarov, Leonid, Nesterova, Galina

المصدر: Processes in GeoMedia—Volume V ; Springer Geology ; page 49-58 ; ISSN 2197-9545 2197-9553 ; ISBN 9783030858506 9783030858513

الإتاحة: https://doi.org/10.1007/978-3-030-85851-3_7Test

المؤلفون: Florenzano, Pablo, Ferreira, Carlos, Nesterova, Galina, Roberts, Mary Scott, Tella, Sri Harsha, de Castro, Luis Fernandez, Brown, Sydney M, Whitaker, Adom, Pereira, Renata C, Bulas, Dorothy, Gafni, Rachel I, Salusky, Isidro B, Gahl, William A, Collins, Michael T

المساهمون: National Institutes of Health

المصدر: Journal of Bone and Mineral Research ; volume 33, issue 10, page 1870-1880 ; ISSN 0884-0431 1523-4681

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbmr.3522Test
https://academic.oup.com/jbmr/article-pdf/33/10/1870/56649139/jbmr3522.pdfTest

المؤلفون: Langman, Craig B., Barshop, Bruce A., Deschênes, Georges, Emma, Francesco, Goodyer, Paul, Lipkin, Graham, Midgley, Julian P., Ottolenghi, Chris, Servais, Aude, Soliman, Neveen A., Thoene, Jess G., Levtchenko, Elena N., Amon, Oliver, Ariceta, Gema, Basurto, Maryan, Belmont-Martínez, Leticia, Bertholet-Thomas, Aurélia, Bos, Marjolein, Brown, Thomas, Cherqui, Stephanie, Cornelissen, Elisabeth A.M., Del Monte, Monte, Ding, Jie, Dohil, Ranjan, Doyle, Maya, Elenberg, Ewa, Gahl, William A., Gomez, Victor, Greco, Marcella, Greeley, Christy, Greenbaum, Larry A., Grimm, Paul, Hohenfellner, Katharina, Holm, Teresa, Hotz, Valerie, Janssen, Mirian C., Kaskel, Frederick, Magriço, Rita, Nesterova, Galina, Newsholme, Philip, Niaudet, Patrick, Rioux, Patrice, Sarwal, Minnie M., Schneider, Jerry, Topaloglu, Rezan, Trauner, Doris A., Vaisbich, Maria Helena, van den Heuvel, Lambertus P., Van't Hoff, William

المصدر: Kidney International ; volume 89, issue 6, page 1192-1203 ; ISSN 0085-2538

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.kint.2016.01.033Test
https://api.elsevier.com/content/article/PII:S0085253816300461?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0085253816300461?httpAccept=text/plainTest

المؤلفون: Servais, Aude, Wuehl, Elke, Niaudet, Patrick, Dohil, Ranjan, Elenberg, Ewa, Greco, Marcella, Janssen, Mirian C., Goodyer, Paul, Cherqui, Stephanie, Labbe, Antoine, Langman, Craig, Nesterova, Galina, Emma, Francesco, Gahl, William, TOPALOĞLU, REZAN, Levtchenko, Elena, Trauner, Doris, Van't Hoff, William, Antignac, Corinne, Cochat, Pierre, Kaskel, Frederick

العلاقة: 6446f860-66b7-4287-90c3-e08ba908c8f3; https://avesis.hacettepe.edu.tr/publication/details/6446f860-66b7-4287-90c3-e08ba908c8f3/oaiTest

الإتاحة: https://doi.org/10.1093/ndt/gfu090Test
https://avesis.hacettepe.edu.tr/publication/details/6446f860-66b7-4287-90c3-e08ba908c8f3/oaiTest