المؤلفون: Vergine G; UOC Pediatria, Ospedale Infermi, Rimini, ASL Romagna., Fressola G; Scuola di Specializzazione in Pediatria, Università degli Studi di Ferrara., Ambroni M; Centro Regionale Fibrosi Cistica, Ospedale Bufalini, Cesena, ASL Romagna., Gessaroli M; Scuola di Specializzazione in Pediatria, Università degli Studi di Bologna., Bigucci B; UOC Pediatria, Ospedale Infermi, Rimini, ASL Romagna., Mazzocco M; UOC Pediatria, Ospedale Infermi, Rimini, ASL Romagna., Conte ML; UOC Pediatria, Ospedale Infermi, Rimini, ASL Romagna.

المصدر: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia [G Ital Nefrol] 2024 Jun 28; Vol. 41 (3). Date of Electronic Publication: 2024 Jun 28.

نوع المنشور: Case Reports; English Abstract; Journal Article

بيانات الدورية: Publisher: Società Italiana di Nefrologia Country of Publication: Italy NLM ID: 9426434 Publication Model: Electronic Cited Medium: Internet ISSN: 1724-5990 (Electronic) Linking ISSN: 03935590 NLM ISO Abbreviation: G Ital Nefrol Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis*/complications , Cystic Fibrosis*/genetics , Cystic Fibrosis*/diagnosis , Bartter Syndrome*/complications , Bartter Syndrome*/diagnosis , Bartter Syndrome*/genetics, Humans ; Male ; Female ; Hyponatremia/etiology ; Alkalosis/etiology ; Child, Preschool ; Child

المؤلفون: Sousa M; Department of Pediatrics, Hospital Divino Espírito Santo, Ponta Delgada, Portugal., Medeiros R; Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal., Rodrigues AL; Department of Pediatrics, Hospital Divino Espírito Santo, Ponta Delgada, Portugal., Dias Pereira B; Department of Endocrinology and Nutrition, Hospital Divino Espírito Santo, Ponta Delgada, Portugal.

المصدر: The American journal of case reports [Am J Case Rep] 2024 Jun 17; Vol. 25, pp. e942872. Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/diagnosis , Bartter Syndrome*/genetics, Humans ; Male ; Infant ; Child ; Arginine Vasopressin

المؤلفون: Jiang L; Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China., Li D; Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China., Guo Q; Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China., Li Y; Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China., Zan L; Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China., Ao R; Department of Endocrinology, Inner Mongolia Autonomous Region People's Hospital, Hohhot 010000, China.

المصدر: Endocrine journal [Endocr J] 2024 May 23; Vol. 71 (5), pp. 537-542. Date of Electronic Publication: 2024 Mar 19.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Japan Endocrine Society Country of Publication: Japan NLM ID: 9313485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1348-4540 (Electronic) Linking ISSN: 09188959 NLM ISO Abbreviation: Endocr J Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/genetics , Bartter Syndrome*/diagnosis , Bartter Syndrome*/complications , Chloride Channels*/genetics, Humans ; Male ; Young Adult ; Follow-Up Studies ; Gitelman Syndrome/genetics ; Gitelman Syndrome/diagnosis ; Gitelman Syndrome/complications ; Mutation

SCR Disease Name: Bartter syndrome, type 3

عنوان ترانسليتريتد: 以假性Bartter综合征为主要表现的囊性纤维化患儿3例并文献复习.

المؤلفون: Zhang JY; Department of Respiratory Medicine,Hunan Children's Hospital, Changsha 410001, China., Sun LJ, Duan XJ; Department of Respiratory Medicine,Hunan Children's Hospital, Changsha 410001, China., Zhang ZM, Xiao ZH, Chen YP; Department of Respiratory Medicine,Hunan Children's Hospital, Changsha 410001, China., You JY

المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2024 May 15; Vol. 26 (5), pp. 506-511.

نوع المنشور: Journal Article; Case Reports; Review; English Abstract

بيانات الدورية: Publisher: Zhongguo dang dai er ke za zhi she Country of Publication: China NLM ID: 100909956 Publication Model: Print Cited Medium: Print ISSN: 1008-8830 (Print) Linking ISSN: 10088830 NLM ISO Abbreviation: Zhongguo Dang Dai Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis*/genetics , Cystic Fibrosis*/complications , Cystic Fibrosis Transmembrane Conductance Regulator*/genetics , Bartter Syndrome*/genetics , Bartter Syndrome*/diagnosis , Bartter Syndrome*/complications , Mutation*, Humans ; Male ; Female ; Infant ; Child, Preschool ; Child ; Retrospective Studies

المؤلفون: Laghmani K; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France.

المصدر: Cells [Cells] 2024 May 10; Vol. 13 (10). Date of Electronic Publication: 2024 May 10.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/metabolism , Bartter Syndrome*/genetics , Solute Carrier Family 12, Member 1*/metabolism , Blood Pressure*, Humans ; Animals ; Endoplasmic Reticulum-Associated Degradation

المؤلفون: Kanda J; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Kanda S; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan.; Department of Pediatrics, The University of Tokyo, Tokyo, Japan., Hayashi Y; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Ariji S; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Shimoda M; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Ono M; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Kanda S; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Yokoyama S; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan., Takahashi K; Department of Pediatrics, Ome Municipal General Hospital, Ome, Japan.

المصدر: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2024 Mar; Vol. 29 (3), pp. 164-167. Date of Electronic Publication: 2023 Dec 07.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE

مواضيع طبية MeSH: Hypocalcemia*/etiology , Hypocalcemia*/genetics , Bartter Syndrome*/complications , Bartter Syndrome*/diagnosis , Bartter Syndrome*/genetics, Humans ; Siblings ; Parathyroid Hormone ; Solute Carrier Family 12, Member 1

SCR Disease Name: Bartter syndrome, antenatal type 1

المؤلفون: Mohan Lal B; Department of Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India., Musthafa Hafeesa N; Department of Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India., Vikram NK; Department of Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India., Ray A; Department of Medicine, All India Institute of Medical Sciences, New Delhi, Delhi, India doctoranimeshray@gmail.com.

المصدر: BMJ case reports [BMJ Case Rep] 2024 May 03; Vol. 17 (5). Date of Electronic Publication: 2024 May 03.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/chemically induced , Bartter Syndrome*/diagnosis , Polymyxin B*/adverse effects , Anti-Bacterial Agents*/adverse effects, Humans ; Male ; Middle Aged

المؤلفون: Wander A; Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, India., Mahesan A; Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Meena AK; Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Manikandan S; Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, India., Peer S; Neuroradiology Division, Department of Radiodiagnosis, All India Institute of Medical Sciences, Bathinda, India., Singh P; Neuroradiology Division, Department of Radiodiagnosis, All India Institute of Medical Sciences, Bathinda, India., Gulati S; Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. sheffaligulati@gmail.com.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2024 Mar; Vol. 91 (3), pp. 314. Date of Electronic Publication: 2023 Dec 20.

نوع المنشور: Letter

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/diagnosis , Bartter Syndrome*/genetics, Humans ; Mutation ; Diagnosis, Differential

المؤلفون: Kieszek B; Department of Nephrology, Hypertension and Kidney Transplantation, Medical University of Lodz, Central University Hospital, Łódź, Poland, Cichocki P; Department of Nuclear Medicine, Medical University of Lodz, Łódź, Poland, Adamczewski Z; Department of Nephrology, Hypertension and Kidney Transplantation, Medical University of Lodz, Central University Hospital, Łódź, Poland. nefro@wp.pl, Nowicki M; Department of Nephrology, Hypertension and Kidney Transplantation, Medical University of Lodz, Central University Hospital, Łódź, Poland. nefro@wp.pl, Masajtis-Zagajewska A; Department of Nephrology, Hypertension and Kidney Transplantation, Medical University of Lodz, Central University Hospital, Łódź, Poland

المصدر: Polish archives of internal medicine [Pol Arch Intern Med] 2024 Apr 26; Vol. 134 (4). Date of Electronic Publication: 2024 Apr 04.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Medycyna Praktyczna Country of Publication: Poland NLM ID: 101700960 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1897-9483 (Electronic) Linking ISSN: 00323772 NLM ISO Abbreviation: Pol Arch Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Bartter Syndrome*/therapy , Embolization, Therapeutic*/methods , Renal Artery*/diagnostic imaging, Adult ; Female ; Humans

المؤلفون: Frachon N; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France., Demaretz S; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France., Seaayfan E; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France., Chelbi L; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France., Bakhos-Douaihy D; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France., Laghmani K; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, F-75006 Paris, France.; CNRS, ERL8228, F-75006 Paris, France.

المصدر: Cells [Cells] 2024 Feb 24; Vol. 13 (5). Date of Electronic Publication: 2024 Feb 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Endoplasmic Reticulum-Associated Degradation* , Bartter Syndrome*/genetics , Bartter Syndrome*/metabolism, Female ; Pregnancy ; Humans ; Endoplasmic Reticulum/metabolism ; Ubiquitination ; Membrane Proteins/metabolism ; Solute Carrier Family 12, Member 1

SCR Disease Name: Bartter syndrome, antenatal type 1