Works matching DE "BARTTER syndrome"

Results: 202

Bartter syndrome presenting as poor weight gain and dehydration in an infant.

Published in:

2012

By:

Alkhateeb, N. E. R.;
Gardee, Z. T.

Publication type:

Case Study

Pseudo-Bartter as an initial presentation of cystic fibrosis. A case report and review of the literature.

Published in:

2010

By:

Marah, M. A.

Publication type:

Case Study

Bartter syndrome: A case report requiring emergency intervention.

Published in:

Ümraniye Pediatri Dergisi, 2024, v. 4, n. 2, p. 92, doi. 10.14744/upd.2024.38247

By:

Kutlu, Tuğba Nur;
Bozkurt, Hayrunnisa Bekis;
Ergüven, Müferet;
Bıçakcı, Zafer

Publication type:

Article

Late-onset Bartter syndrome type II.

Published in:

Clinical Kidney Journal, 2017, v. 10, n. 5, p. 594, doi. 10.1093/ckj/sfx033

By:

Gollasch, Benjamin;
Anistan, Yoland-Marie;
Canaan-Kühl, Sima;
Gollasch, Maik

Publication type:

Article

Cesium-associated hypokalemia successfully treated with amiloride.

Published in:

Clinical Kidney Journal, 2015, v. 8, n. 3, p. 335, doi. 10.1093/ckj/sfv017

By:

Horn, Sarah;
Naidus, Elliot;
Alper, Seth L.;
Danziger, John

Publication type:

Article

Paradoxical hypertension and salt wasting in Type II Bartter syndrome.

Published in:

Clinical Kidney Journal, 2012, v. 5, n. 3, p. 217, doi. 10.1093/ckj/sfs026

By:

Chan, Winnie Kwai-yu;
To, Ka Fai;
Tong, Joanna H. M.;
Law, Chi Wai

Publication type:

Article

Unusual Complication of Multidrug Resistant Tuberculosis.

Published in:

2017

By:

Sharma, Prerna;
Sahay, Ravindra Nath

Publication type:

Case Study

Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.

Published in:

2011

By:

Robitaille, Pierre;
Merouani, Aicha;
He, Ning;
Pei, York

Publication type:

journal article

Prenatal presentation of transient central diabetes insipidus.

Published in:

2011

By:

Kollamparambil, Tanoj Gopalan;
Mohan, Pammi Venkatesh;
Gunasuntharam, Kavitha;
Jani, Bhavdeep Rameshchandra;
Penma, David Gerard;
Penman, David Gerard

Publication type:

journal article

Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel.

Published in:

2009

By:

Chien-Ming Lin;
Jeng-Daw Tsai;
Yi-Fen Lo;
Ming-Tso Yan;
Sung-Sen Yang;
Shih-Hua Lin;
Lin, Chien-Ming;
Tsai, Jeng-Daw;
Lo, Yi-Fen;
Yan, Ming-Tso;
Yang, Sung-Sen;
Lin, Shih-Hua

Publication type:

journal article

Comment on: Bartter syndrome and cholelithiasis in an infant: is this a mere coincidence? (Eur J Pediatr 2008;167(1):109-110).

Published in:

2009

By:

Jae Il Shin;
Jae Seung Lee;
Shin, Jae Il;
Lee, Jae Seung

Publication type:

Case Study

Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.

Published in:

2017

By:

Shiki Fujino;
Norikatsu Miyoshi;
Masayuki Ohue;
Mikio Mukai;
Yoji Kukita;
Taishi Hata;
Chu Matsuda;
Tsunekazu Mizushima;
Yuichiro Doki;
Masaki Mori

Publication type:

Case Study

Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome.

Published in:

Journal of Research in Medical Sciences, 2013, v. 18, n. 9, p. 822

By:

Saneian, Hossein;
Bahraminia, Emad

Publication type:

Article

A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.

Published in:

2017

By:

Breinbjerg, Anders;
Siggaard Rittig, Charlotte;
Gregersen, Niels;
Rittig, Søren;
Hvarregaard Christensen, Jane

Publication type:

journal article

Neonates with Bartter syndrome have enormous fluid and sodium requirements.

Published in:

Acta Paediatrica, 2015, v. 104, n. 7, p. e294, doi. 10.1111/apa.12981

By:

Azzi, Antonio;
Chehade, Hassib;
Deschênes, Georges

Publication type:

Article

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Published in:

2019

By:

Najafi, Maryam;
Bakey, Zeineb;
Schmidts, Miriam;
Kordi-Tamandani, Dor Mohammad;
Behjati, Farkhondeh;
Sadeghi-Bojd, Simin;
Schüle, Isabel;
Karimiani, Ehsan Ghayoor;
Azarfar, Anoush

Publication type:

journal article

ANTENATAL BARTTER SYNDROME: Analysis of Two Cases with Placental Findings.

Published in:

Fetal & Pediatric Pathology, 2010, v. 29, n. 3, p. 121, doi. 10.3109/15513811003777276

By:

Dane, Banu;
Dane, Cem;
Aksoy, Figen;
Cetin, Ahmet;
Yayla, Murat

Publication type:

Article

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca dependence of ClC-Kb channels.

Published in:

Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 9, p. 1713, doi. 10.1007/s00424-013-1401-2

By:

Andrini, Olga;
Keck, Mathilde;
L'Hoste, Sébastien;
Briones, Rodolfo;
Mansour-Hendili, Lamisse;
Grand, Teddy;
Sepúlveda, Francisco;
Blanchard, Anne;
Lourdel, Stéphane;
Vargas-Poussou, Rosa;
Teulon, Jacques

Publication type:

Article

Physiology and pathophysiology of SLC12A1/2 transporters.

Published in:

Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 1, p. 91, doi. 10.1007/s00424-013-1370-5

By:

Markadieu, Nicolas;
Delpire, Eric

Publication type:

Article

Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

Published in:

Clinical Case Reports, 2016, v. 4, n. 9, p. 876, doi. 10.1002/ccr3.471

By:

Rachid, Myriam L.;
Dreux, Sophie;
Czerkiewicz, Isabelle;
Deschênes, Georges;
Vargas‐Poussou, Rosa;
Mahieu‐Caputo, Dominique;
Oury, Jean‐François;
Muller, Françoise

Publication type:

Article

Eplerenone use in primary aldosteronism during pregnancy.

Published in:

Clinical Case Reports, 2016, v. 4, n. 1, p. 81, doi. 10.1002/ccr3.355

By:

Gunganah, Kirun;
Carpenter, Robert;
Drake, William Martyn

Publication type:

Article

CYSTIC FIBROSIS IN AN INFANT PRESENTING WITH FEATURES OF PSEUDO BARTTER'S SYNDROME.

Published in:

2018

By:

Nayak, Dinesh M.;
Nagesha K. M.;
Nayak, Chandrika D.

Publication type:

Case Study

Neonatal Bartter Syndrome.

Published in:

Journal of Nepal Paediatric Society, 2016, v. 36, n. 2, p. 204, doi. 10.3126/jnps.v36i2.14818

By:

A., Roy;
D., Sarkar;
S., Dogra;
S., Sengupta

Publication type:

Article

Amino Alcohol- (NPS-2143) and Quinazolinone-Derived Calcilytics (ATF936 and AXT914) Differentially Mitigate Excessive Signalling of Calcium-Sensing Receptor Mutants Causing Bartter Syndrome Type 5 and Autosomal Dominant Hypocalcemia.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115178

By:

Letz, Saskia;
Haag, Christine;
Schulze, Egbert;
Frank-Raue, Karin;
Raue, Friedhelm;
Hofner, Benjamin;
Mayr, Bernhard;
Schöfl, Christof

Publication type:

Article

Excessive Signal Transduction of Gain-of-Function Variants of the Calcium-Sensing Receptor (CaSR) Are Associated with Increased ER to Cytosol Calcium Gradient.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079113

By:

Ranieri, Marianna;
Tamma, Grazia;
Di Mise, Annarita;
Vezzoli, Giuseppe;
Soldati, Laura;
Svelto, Maria;
Valenti, Giovanna

Publication type:

Article

Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074673

By:

García Castaño, Alejandro;
Pérez de Nanclares, Gustavo;
Madariaga, Leire;
Aguirre, Mireia;
Madrid, Alvaro;
Nadal, Inmaculada;
Navarro, Mercedes;
Lucas, Elena;
Fijo, Julia;
Espino, Mar;
Espitaletta, Zilac;
Castaño, Luis;
Ariceta, Gema

Publication type:

Article

A Cytoplasmic Domain Mutation in ClC-Kb Affects Long-Distance Communication Across the Membrane.

Published in:

PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002746

By:

Martinez, Gilbert Q.;
Maduke, Merritt

Publication type:

Article

SÍNDROME DE BARTTER.

Published in:

Acta Médica Portuguesa, 2011, v. 24, n. S3, p. 671

By:

MENDONÇA, Marta;
PINHEIRO, Adriana;
CASTRO, Isabel

Publication type:

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

P149: Neonatal Variant of Bartter's Syndrome and Deafness.

Published in:

2006

By:

Kaplan, Daniel M;
Leiberman, Alberto;
Landau, Daniel

Publication type:

Abstract

Maternal pseudo-Bartter syndrome associated with severe perinatal brain injury.

Published in:

Indian Pediatrics, 2017, v. 54, n. 9, p. 771, doi. 10.1007/s13312-017-1173-4

By:

Vora, Shrenik;
Ibrahim, Thowfique;
Rajadurai, Victor

Publication type:

Article

Inherited Renal Diseases.

Published in:

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

By:

Leung, Jocelyn C.

Publication type:

Article

Whole Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.

Published in:

2015

By:

CUTZ, ERNEST

Publication type:

Letter to the Editor

Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.

Published in:

2015

By:

LOPEZ, HECTOR U.;
HAVERFIELD, EDEN;
CHUNG, WENDY K.

Publication type:

Case Study

A unique finding of normal aldosterone level in Bartter's syndrome.

Published in:

Journal of Nephropathology, 2017, v. 6, n. 4, p. 359, doi. 10.15171/jnp.2017.59

By:

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

Publication type:

Article

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

Published in:

2015

By:

Calò, Lorenzo A.;
Maiolino, Giuseppe;
Naso, Agostino;
Davis, Paul A.

Publication type:

Letter to the Editor

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 12, p. 866, doi. 10.1038/jhg.2011.110

By:

Ansar, Muhammad;
Lee, Kwanghyuk;
Naqvi, Syed Kamran-ul-Hassan;
Andrade, Paula B;
Basit, Sulman;
Santos-Cortez, Regie Lyn P;
Ahmad, Wasim;
Leal, Suzanne M

Publication type:

Article

Calcium-sensing receptor: Role in health and disease.

Published in:

Indian Journal of Endocrinology & Metabolism, 2012, v. 16, p. S213, doi. 10.4103/2230-8210.104041

By:

Thakker, R. V.

Publication type:

Article

Status epilepticus as the only presentation of the neonatal Bartter syndrome.

Published in:

2012

By:

Patra, Soumya;
Konar, Mithun C.;
Basu, Rajarshi;
Khaowas, Ajoy K.;
Dutta, Soumyadeep;
Sarkar, Debanjali

Publication type:

Case Study

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

Antenatal Bartter Syndrome: A Review.

Published in:

International Journal of Pediatrics, 2012, p. 1, doi. 10.1155/2012/857136

By:

Bhat, Y. Ramesh;
Vinayaka, G.;
Sreelakshmi, K.

Publication type:

Article

Pediatric Nephrology: Highlights for the General Practitioner.

Published in:

International Journal of Pediatrics, 2012, p. 1, doi. 10.1155/2012/270725

By:

Seikaly, Mouin;
Habib, Sabeen;
Barakat, Amin J.;
Gattineni, Jyothsna;
Quigley, Raymond;
Desi, Dev

Publication type:

Article

Classic Bartter syndrome complicated with profound growth hormone deficiency.

Published in:

2013

By:

Adachi, Masanori;
Tajima, Toshihiro;
Muroya, Koji;
Asakura, Yumi

Publication type:

Abstract

Bartter sendromlu hastada anestezi yaklaşımı: Olgu sunumu.

Published in:

Dicle Medical Journal / Dicle Tip Dergisi, 2012, v. 39, n. 3, p. 449, doi. 10.5798/diclemedj.0921.2012.03.0179

By:

Aydoğan, Harun;
Bilgiç, Tekin;
Karahan, Mahmut Alp;
Yalçın, Şaban

Publication type:

Article

Bartter syndrome-like phenotype in a patient with diabetes: a case report.

Published in:

2018

By:

Dalugama, Chamara;
Pathirage, Manoji;
Kularatne, S. A. M.

Publication type:

journal article

G - Immunogenetics.

Published in:: Clinical Genetics, 2010, v. 78, p. 52, doi. 10.1111/j.1399-0004.2010.01564.x
Publication type:: Article

Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome.

Published in:

Clinical Genetics, 2010, v. 77, n. 2, p. 155, doi. 10.1111/j.1399-0004.2009.01288.x

By:

Yu, Y.;
Xu, C.;
Pan, X.;
Ren, H.;
Wang, W.;
Meng, X.;
Huang, F.;
Chen, N.

Publication type:

Article

Care of the Hospitalized Patient with Severe Anorexia Nervosa or Avoidant Restrictive Food Intake Disorder.

Published in:

MEDSURG Nursing, 2021, v. 30, n. 3, p. 197, doi. 10.62116/msj.2021.30.3.197

By:

Hovde, Krista;
Markovchick, Tasha;
Netzky, Julie;
Sandberg, Hannah;
Mehler, Philip S.

Publication type:

Article

Salt is not only sodium—How extracellular fluid volume homoeostasis depends on chloride recovery by the kidneys.

Published in:

Acta Physiologica, 2018, v. 223, n. 4, p. 1, doi. 10.1111/apha.13078

By:

Jensen, B. L.

Publication type:

Article

Acta Award to Regensburg.

Published in:

Acta Physiologica, 2018, v. 223, n. 4, p. 1, doi. 10.1111/apha.13077

By:

Persson, P. B.

Publication type:

Article