Gitelman Syndrome : ScholarlyPaper. [elektronicky zdroj]

Autor: Acton, Q. Ashton

Externí odkaz: Kolekce e-knih KNAV (Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on requests.)

Gitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology.

Autor: Nagaoka K; Department of Nephrology, Kameda Medical Center, Chiba, Japan., Suemitsu T; Department of Obstetrics/Gynecology, Kameda Medical Center, 929 Higashi-cho, Kamogawa, Chiba, 296-8602, Japan. t.suemitsu.90@gmail.com., Kawai K; Department of Genesiology, Kameda Medical Center, Chiba, Japan., Suzuki T; Department of Nephrology, Kameda Medical Center, Chiba, Japan., Mori T; Department of Nephrology, Tokyo Medical and Dental University, Tokyo, Japan., Tajima A; Department of Obstetrics/Gynecology, Kameda Medical Center, 929 Higashi-cho, Kamogawa, Chiba, 296-8602, Japan., Suzuki M; Tomishiro Central Hospital Healthcare Center, Okinawa, Japan., Ohara M; Department of Nephrology, Kameda Medical Center, Chiba, Japan.

Publikováno v: CEN case reports [CEN Case Rep] 2024 Dec; Vol. 13 (6), pp. 484-488. Date of Electronic Publication: 2024 Apr 17.

Gitelman syndrome patient managed with amiloride during pregnancy and lactation.

Autor: Ibrahim A; Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA., Rodan AR; Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA., Westenfelder C; Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA., Al-Rabadi L; Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA. Laith.Al-Rabadi@hsc.utah.edu.

Publikováno v: BMC nephrology [BMC Nephrol] 2024 Nov 09; Vol. 25 (1), pp. 403. Date of Electronic Publication: 2024 Nov 09.

Genotype-phenotype correlations in children with Gitelman syndrome.

Autor: Cho MH; Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea., Park PG; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Kim JH; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Jang KM; Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Republic of Korea., Lee JM; Division of Rare Disease Management, Bureau of Chronic Disease Management, Korea Disease Control and Prevention Agency, Osong, Republic of Korea., Yang EM; Department of Pediatrics, Chonnam National University Hospital and Medical School, Gwangju, Republic of Korea., Park SJ; Department of Pediatrics, Daejeon Eulji Medical Center, Eulji University School of Medicine, Daejeon, Republic of Korea., Suh JS; Department of Pediatrics, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea., Cho H; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Lee JW; Department of Pediatrics, Ewha Womans University College of Medicine, Seoul, Republic of Korea., Lee JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Koo JW; Inje University Sanggye Paik Hospital, Seoul, Republic of Korea., Namgoong MK; Department of Pediatrics, Yonsei University Wonju College of Medicine, Wonju, Republic of Korea., Kim KH; Department of Pediatrics, National Health Insurance Corporation Ilsan Hospital, Goyang, Republic of Korea., Ahn YH; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Kang HG; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Cheong HI; Department of Pediatrics, Seoul Red Cross Hospital, 9 Saemoonan-Ro, Jongno-Gu, Seoul, 03181, Korea. cheonghi@snu.ac.kr.

Publikováno v: Clinical and experimental nephrology [Clin Exp Nephrol] 2024 Aug; Vol. 28 (8), pp. 803-810. Date of Electronic Publication: 2024 Mar 13.

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

Autor: Law CY; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China., Lui DTW; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lau E; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China., Woo CSL; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chang JYC; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Leung EKH; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lee ACH; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lee CH; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Woo YC; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chow WS; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lam KSL; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Tan KCB; Department of Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Ling TK; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China., Lam CW; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China; Department of Pathology, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China. Electronic address: ching-wanlam@pathology.hku.hk.

Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2025 Jan 01; Vol. 564, pp. 119924. Date of Electronic Publication: 2024 Aug 15.