المؤلفون: Cacciapuoti, Martina, Caputo, Ilaria, Stefanelli, Lucia, Davis, Paul, Nalesso, Federico, Calò, Lorenzo

المصدر: Clinics and Practice. 14(2)

مصطلحات موضوعية: ACE2, Bartter’s syndrome, COVID-19, Cathepsin-L, Fabry disease, Gitelman’s syndrome

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/47g273sb
https://escholarship.org/content/qt47g273sb/qt47g273sb.pdf

المؤلفون: Sgarabotto, Luca, Ravarotto, Verdiana, Stefanelli, Lucia, Cacciapuoti, Martina, Davis, Paul, Nalesso, Federico, Calò, Lorenzo

المصدر: Antioxidants. 12(4)

مصطلحات موضوعية: Bartter’s syndrome, Gitelman’s syndrome, cardiovascular remodeling, oxidants, renal remodeling

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5zv0f1z2
https://escholarship.org/content/qt5zv0f1z2/qt5zv0f1z2.pdf

المؤلفون: Martina Cacciapuoti, Ilaria Caputo, Lucia Federica Stefanelli, Paul A. Davis, Federico Nalesso, Lorenzo A. Calò

المصدر: Clinics and Practice, Vol 14, Iss 2, Pp 614-618 (2024)

مصطلحات موضوعية: Gitelman’s syndrome, Bartter’s syndrome, Fabry disease, ACE2, Cathepsin-L, COVID-19, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2039-7283/14/2/48; https://doaj.org/toc/2039-7283

URL الوصول: https://doaj.org/article/d13c7125ea294338b5afef41d90b9496

المؤلفون: Revilla, Narkis, Maldonado, Nereida, García-Nieto, Victor, Claverié-Martín, Félix

المصدر: Archivos Venezolanos de Puericultura y Pediatría; Vol. 72 Núm. 4 (2009): Octubre-Diciembre; 135-138 ; 0004-0649

مصطلحات موضوعية: Síndrome de Bartter, SBSN, Síndrome de Bartter con Sordera Neurosensorial, Bartter’s Syndrome, Bartter’s Syndrome with Sensorineural Deafness

وصف الملف: application/pdf

Relation: http://saber.ucv.ve/ojs/index.php/revista_avpp/article/view/28802/144814494357; http://190.169.94.12/ojs/index.php/revista_avpp/article/view/28802

الاتاحة: http://190.169.94.12/ojs/index.php/revista_avpp/article/view/28802

المؤلفون: Calò, Lorenzo, Davis, Paul

المصدر: International Journal of Molecular Sciences. 21(16)

مصطلحات موضوعية: ACE2, Ang 1-7, Bartter’s syndrome, Gitelman’s syndrome, endosome pH, gene mutations, glycosylation, phenotype, Angiotensin-Converting Enzyme 2, Angiotensin-Converting Enzyme Inhibitors, Animals, Bartter Syndrome, COVID-19, Coronavirus Infections, Endosomes, Gitelman Syndrome, Humans, Hydroxychloroquine, Pandemics, Peptidyl-Dipeptidase A, Phenotype, Pneumonia, Viral

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1325891d
https://escholarship.org/content/qt1325891d/qt1325891d.pdf

المؤلفون: Mingsheng Ma, Mengqi Zhang, Yu Zhou, Fengxia Yao, Min Wei, Zhenghong Li, Zhengqing Qiu

المصدر: BMC Nephrology, Vol 22, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: MAGED2 gene, Transient antenatal Bartter’s syndrome, Polyhydramnios, Case report, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/6e093c7a878c43f7875e40b313f8e666

المؤلفون: Hongyuan Yang, Zhiyong Liu, Yaying Wu, Jinglin Xu, Ying He, Ruiquan Wang, Weifeng Zhang, Dongmei Chen

المصدر: Frontiers in Pediatrics, Vol 10 (2023)

مصطلحات موضوعية: MAGED2, antenatal bartter's syndrome, extremely preterm infant, transient haematuria, acute kidney injury, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1093268/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/b467c51297544dbd8ed5513e67dd74a5

المؤلفون: Nasrah, Sadiq

المساهمون: Zentrum für Kinder- und Jugendmedizin, Medizin

مصطلحات موضوعية: Medical sciences Medicine, Medizin, ddc:610, cellular stress, Bartter’s syndrome, MAGED2, G-alpha-S, autophagy, hypoxia nephrogenesis, cAMP

Relation: https://doi.org/10.3390/ijms241713433

الاتاحة: https://doi.org/10.3390/ijms241713433

المؤلفون: Luca Sgarabotto, Verdiana Ravarotto, Lucia Federica Stefanelli, Martina Cacciapuoti, Paul A. Davis, Federico Nalesso, Lorenzo A. Calò

المصدر: Antioxidants; Volume 12; Issue 4; Pages: 811

مصطلحات موضوعية: oxidants, cardiovascular remodeling, renal remodeling, Bartter’s syndrome, Gitelman’s syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/antiox12040811

الاتاحة: https://doi.org/10.3390/antiox12040811

المؤلفون: Mark Stevenson (12028946), Alistair T. Pagnamenta (6380606), Heather G Mack (8896952), JUDITH SAVIGE (1110359), Edoardo Giacopuzzi (138370), Kate E. Lines (12028960), Jenny C. Taylor (6811466), David A McCredie (12028972), Rajesh V. Thakker (223840)

مصطلحات موضوعية: Genetics, Bartter’s syndrome, gitelman syndrome

Relation: https://figshare.com/articles/journal_contribution/Fifty_Year_Follow-up_of_Gitelman_Syndrome_Revision_of_Diagnosis_after_Whole_Genome_Sequencing/19102949

الاتاحة: https://doi.org/10.6084/m9.figshare.19102949.v1

المؤلفون: Xiaoxia Wu, Le Huang, Caiqun Luo, Yang Liu, Jianmin Niu

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: MAGED2, polyhydramnios, antenatal Bartter's syndrome, case report, mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.778814/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/a3af009d1123468cb082e8be20ccc769

المؤلفون: Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana V. Sergeeva, Olga V. Chumakova, Svetlana S. Paunova, Nurali Z. Zokirov, Olga V. Komarova, Tea V. Margieva, Vladimir K. Tatochenko, Maya D. Bakradze, Elena N. Tsygina, Olga I. Zrobok, Tatiana V. Vashurina, Irina N. Lupan, Mikhail Yu. Kagan, Alexey N. Tsygin

المصدر: Педиатрическая фармакология, Vol 16, Iss 2, Pp 85-90 (2019)

مصطلحات موضوعية: tubulopathies, bartter’s syndrome, diagnosis, treatment, clinical guidelines, children, Pediatrics, RJ1-570, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.pedpharma.ru/jour/article/view/1720; https://doaj.org/toc/1727-5776; https://doaj.org/toc/2500-3089

URL الوصول: https://doaj.org/article/846b8deb1e164b068bb58c895ef61a6b

المؤلفون: Mingsheng Ma (3087858), Mengqi Zhang (1580830), Yu Zhou (89766), Fengxia Yao (9852), Min Wei (77168), Zhenghong Li (8598021), Zhengqing Qiu (3135012)

مصطلحات موضوعية: Medicine, Genetics, Cancer, Computational Biology, MAGED2 gene, Transient antenatal Bartter’s syndrome, Polyhydramnios, Case report

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_novel_MAGED2_variant_in_a_Chinese_preterm_newborn_with_transient_antenatal_Bartter_s_syndrome_with_4_years_follow-up/17163284

الاتاحة: https://doi.org/10.6084/m9.figshare.17163284.v1

المؤلفون: Francesco Francini, Laura Gobbi, Verdiana Ravarotto, Silvia Toniazzo, Federico Nalesso, Paolo Spinella, Lorenzo A Calò

المصدر: Nutrients, Vol 13, Iss 9, p 2960 (2021)

مصطلحات موضوعية: Gitelman’s syndrome, Bartter’s syndrome, nutritional therapy, sucrosomial magnesium, potassium supplements, Nutrition. Foods and food supply, TX341-641

Relation: https://www.mdpi.com/2072-6643/13/9/2960; https://doaj.org/toc/2072-6643; https://doaj.org/article/69e75e81789b4193999f50d7db4b8c3b

الاتاحة: https://doi.org/10.3390/nu13092960
https://doaj.org/article/69e75e81789b4193999f50d7db4b8c3b

المؤلفون: Dalila Sahbani, Bice Strumbo, Silvana Tedeschi, Elena Conte, Giulia Maria Camerino, Elisa Benetti, Giovanni Montini, Gabriella Aceto, Giuseppe Procino, Paola Imbrici, Antonella Liantonio

المصدر: Frontiers in Pharmacology, Vol 11 (2020)

مصطلحات موضوعية: Bartter’s syndrome, barttin, kidney chloride channels, patch clamp, pharmacology, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fphar.2020.00327/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/9c8a9393433b49a49177acba818535fc

المؤلفون: Chamara Dalugama, Manoji Pathirage, S. A. M. Kularatne

المصدر: Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: Hypokalemia, Metabolic alkalosis, Bartter’s syndrome, Acquired, Idiopathic, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13256-018-1752-6; https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/b7fd7af3e12c46048afedcf2bd8aa319

المؤلفون: Rupesh Raina, Tushar Chaturvedi, Shyam Polaconda, Amrita Siri Mukunda, Sidharth Kumar Sethi, Vinod Krishnappa

المصدر: Journal of Nephropathology, Vol 6, Iss 4, Pp 359-362 (2017)

مصطلحات موضوعية: bartter’s syndrome, hypokalemia, renal tubular acidosis, hypermagnesuria, normal aldosterone levels, Pathology, RB1-214, Internal medicine, RC31-1245, Other systems of medicine, RZ201-999

وصف الملف: electronic resource

Relation: https://nephropathol.com/PDF/jnp-6-359.pdf; https://doaj.org/toc/2251-8363; https://doaj.org/toc/2251-8819

URL الوصول: https://doaj.org/article/309c98a57f5f48ccb46626e42373e1ed

المؤلفون: Devuyst, Olivier

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: Kidney International, Vol. 97, no. 5, p. 818-822 (2020)

مصطلحات موضوعية: Bartter's syndrome, Cell polarity, Distal tubule, Endocytosis, Proximal tubule

Relation: boreal:250714; http://hdl.handle.net/2078.1/250714; info:pmid/; urn:ISSN:0085-2538; urn:EISSN:1523-1755

الاتاحة: http://hdl.handle.net/2078.1/250714
https://doi.org/10.1016/j.kint.2020.02.015

المؤلفون: Calò, Lorenzo A, Palazzo, Viviana, Salviati, Leonardo, Anglani, Franca

المساهمون: Calò, Lorenzo A, Palazzo, Viviana, Salviati, Leonardo, Anglani, Franca

مصطلحات موضوعية: Bartter’s syndrome, Blended phenotype, Complex inheritance, Distal renal tubular acidosi, Genetic modifier, Gitelman’s syndrome, KCNJ1, SLC12A3, SLC4A1

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32926342; info:eu-repo/semantics/altIdentifier/wos/WOS:000569294000001; firstpage:.; lastpage:.; numberofpages:4; journal:JN. JOURNAL OF NEPHROLOGY; http://hdl.handle.net/11577/3350899; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090960065; https://pubmed.ncbi.nlm.nih.gov/32926342/

الاتاحة: http://hdl.handle.net/11577/3350899
https://doi.org/10.1007/s40620-020-00861-7
https://pubmed.ncbi.nlm.nih.gov/32926342/

المؤلفون: Lorenzo A Calò, Paul A Davis

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 16; Pages: 5660

مصطلحات موضوعية: Gitelman’s syndrome, Bartter’s syndrome, gene mutations, glycosylation, endosome pH, phenotype, ACE2, Ang 1-7

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms21165660

الاتاحة: https://doi.org/10.3390/ijms21165660