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BARTTER SYNDROME, TYPE 4A

Known as: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS, BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS, BSND 
National Institutes of Health

Related topics

Related topics

15 relations
Autosomal recessive inheritanceBSND geneFailure to ThriveGenetic Heterogeneity

Broader (2)

Bartter DiseaseSensorineural Hearing Loss (disorder)

Papers overview

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2020
2020
Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of Sensorineural Hearing Loss in a Childhood Hearing Loss Unit
2019
2019
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome
Abstract Rationale: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and… 
2019
2019
Hypokalemia and hearing loss in a 3-year-old boy: Questions
Bartter syndrome with sensorineural deafness (Bartter syndrome type 4) is an autosomal recessive disorder characterized with… 
2018
2018
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.
2017
2017
A 7-year-old girl presenting with a Bartter-like phenotype: Answers
The patient presented multiorgan-involving symptoms and signs sequentially: lower extremity muscle weakness at 3 years and 5… 
2014
2014
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and… 
2011
2011
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype… 
2008
2008
BSND students' perception on the adequacy of laboratories and facilities of the College of Human Ecology and Food Sciences, USM, Kabacan, Cotabato, Philippines
This study was conducted to determine the BSND students’ perception on the adequacy of laboratories and facilities of the College… 
2006
2006
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
Watkins PJ. Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. Diabetes Care 2001; 24: 495–499 2… 
2004
2004
Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency*
Foxa1 is a member of the winged helix family of transcription factors and is expressed in the collecting ducts of the kidney. We… 
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