المؤلفون: Ji Hye Cheon, Na Li Yu, Na Mi Lee

المصدر: Neonatal Medicine, Vol 30, Iss 3, Pp 75-78 (2023)

مصطلحات موضوعية: congenital chloride diarrhea, slc26a3, mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://neo-med.org/upload/pdf/nm-2023-30-3-75.pdfTest; https://doaj.org/toc/2287-9412Test; https://doaj.org/toc/2287-9803Test

الوصول الحر: https://doaj.org/article/718d6e81c24741fda5f3e61e95012d6dTest

المؤلفون: Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai, Ying Wang

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Microvillus inclusion disease, Congenital chloride diarrhea, Congenital tufting enteropathy, Neonatal-onset diarrhea, Whole-exome sequencing, Monogenetic mutation, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/08068b112e3342bd91cfc4fc1bd78a60Test

المؤلفون: Lavinia Di Meglio, Giusi Grimaldi, Francesco Esposito, Monica Gelzo, Maria Valeria Esposito, Giuseppe Castaldo, Roberto Berni Canani

المصدر: Frontiers in Pediatrics, Vol 9 (2022)

مصطلحات موضوعية: SLC26A3, butyrate, congenital diarrheal disorders, COEDS, congenital chloride diarrhea, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.810765/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/2fa1ef8969314cbd937724bc84b975f5Test

المؤلفون: Izabela Cendal, Agnieszka Szafrańska, Tomasz Fuchs, Dariusz Patkowski, Robert Smigiel, Barbara Królak-Olejnik

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: congenital chloride diarrhea (CCD), infant diarrhea, chronic diarrhea, SLC26A3 gene, case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.758006/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/91ec21c498204c5a9f844d09047e8110Test

المؤلفون: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja, Agneta Anderzén-Carlsson

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Case report, Congenital chloride diarrhea, Deafness, Neonatal diarrhea, Pendred syndrome, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-020-01023-zTest; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/4ce51d37080146b1ae322711484c82fcTest

المؤلفون: Valavi E, Javaherizadeh H, Hakimzadeh M, Amoori P

المصدر: Pediatric Health, Medicine and Therapeutics, Vol Volume 10, Pp 153-156 (2019)

مصطلحات موضوعية: congenital chloride diarrhea, corticosteroid therapy, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/improvement-ofTest-congenital-chloride-diarrhea-with-corticosteroids-an-in-peer-reviewed-article-PHMT; https://doaj.org/toc/1179-9927Test

الوصول الحر: https://doaj.org/article/62298b62562b4361a230d438cefc3180Test

المؤلفون: Lindberg, Eva, Möller, Claes, 1950, Kere, Juha, Wedenoja, Satu, Anderzen-Carlsson, Agneta, 1966

المصدر: BMC Medical Genetics. 21(1)

مصطلحات موضوعية: Case report, Congenital chloride diarrhea, Deafness, Neonatal diarrhea, Pendred syndrome

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-81344Test
https://doi.org/10.1186/s12881-020-01023-zTest

المؤلفون: Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)

مصطلحات موضوعية: Congenital chloride diarrhea, SLC26A3 gene, Compound heterozygous state, Novel mutation, Recurrent mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-019-1390-1Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/c6938e8e1fa34928afb5065d8f5038e5Test

المؤلفون: Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K, Uhlig, Holm H, Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaques, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andreas, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija-Leena, Ruemmele, Frank M

المساهمون: Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K, Uhlig, Holm H, Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaque, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andrea, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija-Leena, Ruemmele, Frank M

مصطلحات موضوعية: Crohn’s disease, SLC26A3, congenital chloride diarrhea, monogenic disease, ulcerative colitis

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000711392000007; volume:15; issue:10; firstpage:1679; lastpage:1685; numberofpages:7; journal:JOURNAL OF CROHN'S AND COLITIS; https://hdl.handle.net/11588/850884Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118283616; https://pubmed.ncbi.nlm.nih.gov/33770165Test/

الإتاحة: https://doi.org/10.1093/ecco-jcc/jjab056Test
https://hdl.handle.net/11588/850884Test
https://pubmed.ncbi.nlm.nih.gov/33770165Test/

المؤلفون: Elena Kurteva, Keith J. Lindley, Susan M. Hill, Jutta Köglmeier

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: congenital chloride diarrhea, mucosa, inflammation, pathophysiology, IBD, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fped.2020.00365/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/8fc0909462ab46f8bbc363a83d648bccTest