Works matching DE "GITELMAN syndrome"

Results: 104

Na-Cl Co-transporter (NCC) gene inactivation is associated with improved bone microstructure.

Published in:

Osteoporosis International, 2022, v. 33, n. 10, p. 2193, doi. 10.1007/s00198-022-06471-2

By:

Qi, Wenting;
Yin, Zinan;
Liang, Hanting;
Chi, Yue;
Liu, Wei;
Jiajue, Ruizhi;
Jiang, Yan;
Wang, Ou;
Li, Mei;
Xing, Xiaoping;
Tong, Anli;
Xia, Weibo

Publication type:

Article

Gitelman syndrome and chondrocalcinosis. A clinical case review.

Published in:

2015

By:

Rosselló Aubach, L. l.;
Vélez Cedeño, V. K.;
Montalà Palou, N.;
Conde Seijas, M.;
Palliso Folch, F.

Publication type:

Case Study

A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 3, p. 306, doi. 10.1093/ckj/sfu029

By:

Larkins, Nicholas;
Wallis, Mathew;
McGillivray, Barbara;
Mammen, Cherry

Publication type:

Article

An Adolescent with Tingling and Numbness of Hand: Gitelman Syndrome.

Published in:

2015

By:

Poudel, Atul

Publication type:

Case Study

Gitelman syndrome: a case report.

Published in:

2012

By:

Razaghy-azar, Maryam;
Tabatabaei, Fatemeh

Publication type:

Case Study

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.

Published in:

Nefrologia, 2017, v. 37, n. 4, p. 423, doi. 10.1016/j.nefro.2017.01.007

By:

Gil-Peña, Helena;
Coto, Eliecer;
Santos, Fernando;
Espino, Mar;
Crespo, Jose Ma Cea;
Chantzopoulos, Giannis;
Komianou, Filadelfia;
Gómez, Juan;
Alonso, Belén;
Iglesias, Sara;
Treard, Cyrielle;
Vargas-Poussou, Rosa

Publication type:

Article

Gitelman syndrome with hyponatraemia, a rare presentation.

Published in:

2014

By:

Guedes-Marques, Maria;
Silva, Cirstina;
Ferreira, Emanuel;
Mala, Pedro;
Carreira, Armando;
Campos, Mário

Publication type:

Letter to the Editor

A Case of Gitelman Syndrome Diagnosed with Anorexia Nervosa in a Psychiatry Clinic.

Published in:

Turk Psikiyatri Dergisi, 2020, v. 31, n. 1, p. 70, doi. 10.5080/u23601

By:

KAVAK SİNANOĞLU, Gökçe;
AYDIN, Memduha

Publication type:

Article

A Rare Cause of Hypokalemia: Gitelman Syndrome.

Published in:

European Journal of General Medicine, 2011, v. 8, n. 2, p. 154, doi. 10.29333/ejgm/82719

By:

Eren, Mehmet Ali;
Tabur, Suzan;
Sezgin, Burcu;
Sabuncu, Tevfik

Publication type:

Article

Pemphigus vegetans associated with Gitelman syndrome.

Published in:

2015

By:

Akkari, H.;
Belkahla, M.;
Youssef, M.;
Letaief, A.;
Soua, Y.;
Sriha, B.;
Belhadjali, H.;
Zili, J.

Publication type:

Case Study

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0104-4

By:

Abe, Yuki;
Yamamoto, Toshiyuki;
Izumita, Yukie;
Tsukano, Shinya

Publication type:

Article

Hypokalaemic metabolic alkalosis resembing Gitelman syndrome with focal segmental glomerulosclerosis.

Published in:

Internal Medicine Journal, 2017, v. 47, n. 10, p. 1211, doi. 10.1111/imj.13566

By:

Brebner, Alex;
Hayat, Ashik

Publication type:

Article

Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-Barré syndrome during pregnancy and review of the literature.

Published in:

Clinical Case Reports, 2017, v. 5, n. 10, p. 1597, doi. 10.1002/ccr3.1122

By:

Elkoundi, Abdelghafour;
Kartite, Noureddine;
Bensghir, Mustapha;
Doghmi, Nawfal;
Lalaoui, Salim Jaafar

Publication type:

Article

Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

Published in:

Clinical Case Reports, 2017, v. 5, n. 5, p. 578, doi. 10.1002/ccr3.874

By:

Xia, Ming‐Feng;
Bian, Hua;
Liu, Hong;
Wu, Hui‐Juan;
Zhang, Zhi‐Gang;
Lu, Zhi‐Qiang;
Gao, Xin

Publication type:

Article

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95521-6

By:

Kondo, Atsushi;
Nagano, China;
Ishiko, Shinya;
Omori, Takashi;
Aoto, Yuya;
Rossanti, Rini;
Sakakibara, Nana;
Horinouchi, Tomoko;
Yamamura, Tomohiko;
Nagai, Sadayuki;
Okada, Eri;
Shima, Yuko;
Nakanishi, Koichi;
Ninchoji, Takeshi;
Kaito, Hiroshi;
Takeda, Hiroki;
Nagase, Hiroaki;
Morisada, Naoya;
Iijima, Kazumoto;
Nozu, Kandai

Publication type:

Article

Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.

Published in:

Nephrology, 2017, v. 22, n. 8, p. 652, doi. 10.1111/nep.13045

By:

Gu, Xiangchen;
Su, Zheling;
Chen, Min;
Xu, Yanqiu;
Wang, Yi

Publication type:

Article

Recurrent paralytic ileus..... could be Gitelman's syndrome!

Published in:

2013

By:

Dosi, R. V.;
Ambaliya, A.;
Patell, R. D.;
Patil, R. S.;
Shah, P. J.

Publication type:

Journal Article

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Published in:

Laboratory Medicine, 2024, v. 55, n. 1, p. 13, doi. 10.1093/labmed/lmad027

By:

Topak, Ali

Publication type:

Article

Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome.

Published in:

2021

By:

Chen, Qi;
Wang, Xiaoyi;
Min, Jingjing;
Wang, Lin;
Mou, Lijun

Publication type:

journal article

Inherited Renal Diseases.

Published in:

Current Pediatric Reviews, 2014, v. 10, n. 2, p. 95

By:

Leung, Jocelyn C.

Publication type:

Article

Gitelman's syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female.

Published in:

Journal of Nephropathology, 2015, v. 4, n. 2, p. 38, doi. 10.12860/jnp.2015.08

By:

Jafry, Nazrul Hassan;
Ahmed, Ejaz;
Mubarak, Muhammed

Publication type:

Article

Identification of two novel mutations in SLC12A3 gene in two Chinese pedigrees with Gitelman syndrome and review of literature.

Published in:

Clinical Endocrinology, 2015, v. 83, n. 6, p. 985, doi. 10.1111/cen.12820

By:

Li, Congcong;
Zhou, Xinli;
Han, Wenxia;
Jiang, Xiuyun;
Liu, Jia;
Fang, Li;
Wang, Hai;
Guan, Qingbo;
Gao, Ling;
Zhao, Jiajun;
Xu, Jin;
Xu, Chao

Publication type:

Article

Graves' disease and Gitelman syndrome.

Published in:

2016

By:

Mizokami, Tetsuya;
Hishinuma, Akira;
Kogai, Takahiko;
Hamada, Katsuhiko;
Maruta, Tetsushi;
Higashi, Kiichiro;
Tajiri, Junichi

Publication type:

Letter to the Editor

The Authors' Reply: The association of systemic oxidative stress with insulin resistance: mechanistic insights from studies in Bartter's and Gitelman's syndromes.

Published in:

2015

By:

Kopprasch, Steffi

Publication type:

Letter to the Editor

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 7, p. 376, doi. 10.1038/jhg.2014.37

By:

Tavira, Beatriz;
Gómez, Juan;
Santos, Fernando;
Gil, Helena;
Alvarez, Victoria;
Coto, Eliecer

Publication type:

Article

Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene.

Published in:

2014

By:

Shigeru Makino;
Toshihiro Tajima;
Jun Shinozuka;
Aki Ikumi;
Hitoshi Awaguni;
Shin-ichiro Tanaka;
Rikken Maruyama;
Shinsaku Imashuku

Publication type:

Case Study

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 2021, v. 81, n. 8, p. 629, doi. 10.1080/00365513.2021.1989715

By:

Wang, Feng;
Guo, Manli;
Li, Jing;
Ma, Shaogang

Publication type:

Article

Gitelman Syndrome in a Case of Diabetic Kidney Disease: A Diagnostic and Therapeutic Dilemma.

Published in:

Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 1, p. 19, doi. 10.7860/JCDR/2018/29991.11121

By:

SETH, VAIBHAV;
MANDAL, SOMNATH;
SARKAR, NILADRI;
NEOGI, SUBHASIS;
DAS, SHAMBADITYA

Publication type:

Article

A Middle Aged Man Presented with Recurrent Hypokalemia and Basal Ganglia Calcification.

Published in:

2016

By:

DAS, APARNA;
SULTANA, RABAB;
KAHHAR, M. A.

Publication type:

Case Study

Gitelman's Syndrome: An unusual cause of Recurrent Attack of Quadriparesis.

Published in:

2015

By:

SHAHRIN, SABRINA;
PANDAY, RAKESH;
UDDIN SOHEL, KAMAL;
ISLAM, NAZMUL;
RAHMAN, MOTLABUR;
AMINUL HOQUE, AKM

Publication type:

Case Study

Gitelman Syndrome.

Published in:

2012

By:

CHOUDHURY, MINHAJ RAHIM;
HASSAN, M. MASUDUL;
HOSSAIN, MAHBUB

Publication type:

Case Study

Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.

Published in:

2018

By:

Gug, Cristina;
Mihaescu, Adelina;
Mozos, Ioana

Publication type:

Case Study

Acute pseudogout - Measure serum magnesium.

Published in:

2019

By:

Gama, RM;
Barkham, N;
Ward, J;
Gama, R;
Borovickova, I;
Gama, R M

Publication type:

journal article

Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.

Published in:

2016

By:

Liu, Ting;
Wang, Cui;
Lu, Jingru;
Zhao, Xiangzhong;
Lang, Yanhua;
Shao, Leping

Publication type:

journal article

Anesthesia in a patient with Gitelman syndrome.

Published in:

2016

By:

Shah, Rajkiran Babubhai;
Shah, Veena R.;
Parikh, Geeta P.;
Vora, Kalpana S.

Publication type:

Case Study

Chondrocalcinosis and Gitelman syndrome.

Published in:

QJM: An International Journal of Medicine, 2016, v. 109, n. 8, p. 563, doi. 10.1093/qjmed/hcw045

By:

Iqbal, Z.;
Sayer, J. A.

Publication type:

Article

The outcome of two pregnancies in a patient with Gitelman syndrome: case report and review of the literature.

Published in:

2020

By:

Wu, Wei-Fang;
Pan, Mian

Publication type:

journal article

Gitelman's syndrome associated with chondrocalcinosis: a case report.

Published in:

Renal Failure, 2013, v. 35, n. 9, p. 1285, doi. 10.3109/0886022X.2013.824380

By:

Koçkara, Ayşe Şeker;
Candan, Ferhan;
Hüzmeli, Can;
Kayataş, Mansur;
Alaygut, Demet

Publication type:

Article

Gitelman syndrome with transient renal tubular damage in early childhood.

Published in:

2021

By:

Sado, Megumi;
Takano, Kyoko;
Kurata, Kenji;
Kitahara, Masashi

Publication type:

Case Study

Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy.

Published in:

Pediatrics International, 2020, v. 62, n. 4, p. 428, doi. 10.1111/ped.14089

By:

Nozu, Kandai;
Yamamura, Tomohiko;
Horinouchi, Tomoko;
Nagano, China;
Sakakibara, Nana;
Ishikura, Kenji;
Hamada, Riku;
Morisada, Naoya;
Iijima, Kazumoto

Publication type:

Article

Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review.

Published in:

Case Reports in Perinatal Medicine, 2023, v. 12, n. 1, p. 1, doi. 10.1515/crpm-2021-0075

By:

Cao, Yang;
Hu, Dan;
Yun, Peng;
Huang, Xinwei;
Chen, Yan;
Li, Fangping

Publication type:

Article

Acquired Gitelman Syndrome Secondary to Bendamustine Use.

Published in:

2018

By:

ROGERS, ANDREW;
GANDHI, PULKIT;
BAUTISTA, JOSEPH;
JIE TANG

Publication type:

Case Study

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman's syndrome.

Published in:

2016

By:

Manappallil, Robin George

Publication type:

Case Study

GITELMAN SYNDROME AS A RARE CAUSE OF HYPOKALEMIA - CASE REPORT.

Published in:

2014

By:

Dimitrijević, Zorica;
Mitić, Branka;
Đorđević, Vidojko

Publication type:

Case Study

Hyperemesis Gravidarum in Undiagnosed Gitelman’s Syndrome.

Published in:

2016

By:

Acelajado, Maria Czarina;
Culpepper, R. Michael;
Bolton III, Wilburn D.

Publication type:

Case Study

Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia.

Published in:

2013

By:

Desai, Madhav;
Kolla, Praveen Kumar;
Reddy, P. L. Venkata Pakki

Publication type:

Case Study

Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome.

Published in:

PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180811

By:

Peng, Xiaoyan;
Jiang, Lanping;
Chen, Chen;
Qin, Yan;
Yuan, Tao;
Wang, Ou;
Xing, Xiaoping;
Li, Xuemei;
Nie, Min;
Chen, Limeng

Publication type:

Article

CAGAR syndrome.

Published in:

Lijecnicki Vjesnik, 2019, v. 141, p. 51

By:

Bošnjak, Vito;
Miličević, Ana;
Prkačin, Ingrid

Publication type:

Article

Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 6, p. 644, doi. 10.5152/TurkArchPediatr.2022.22124

By:

Huseynli, Bahruz;
Atmış, Bahriye;
Cevizli, Derya;
Bişgin, Atıl;
Bayazıt, Aysun Karabay

Publication type:

Article

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients.

Published in:

Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00559

By:

Peng, Xiaoyan;
Zhao, Bingbin;
Zhang, Lei;
Jiang, Lanping;
Yuan, Tao;
Wang, Ying;
Wang, Haiyun;
Ma, Jie;
Li, Naishi;
Zheng, Ke;
Nie, Min;
Li, Xuemei;
Xing, Xiaoping;
Chen, Limeng

Publication type:

Article