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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
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National Institutes of Health
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Related topics
Related topics
15 relations
Autosomal recessive inheritance
BSND gene
Failure to Thrive
Genetic Heterogeneity
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Broader (2)
Bartter Disease
Sensorineural Hearing Loss (disorder)
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of Sensorineural Hearing Loss in a Childhood Hearing Loss Unit
M. Costales
,
M. Diñeiro
,
+9 authors
R. Cabanillas
Acta Otorrinolaringologica (English Edition)
2020
Corpus ID: 219658402
2019
2019
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome
Jingyi Li
,
Shoulong Hu
,
+4 authors
Shuibing Zhu
Medicine
2019
Corpus ID: 201617177
Abstract Rationale: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and…
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2019
2019
Hypokalemia and hearing loss in a 3-year-old boy: Questions
O. Aksoy
,
F. S. Çaycı
,
S. Ceylaner
,
Sibel Alicura Tokgoz
,
G. Kaplan
,
U. Bayrakçı
Pediatric nephrology (Berlin, West)
2019
Corpus ID: 204974816
Bartter syndrome with sensorineural deafness (Bartter syndrome type 4) is an autosomal recessive disorder characterized with…
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2018
2018
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.
Soukaina Elrharchi
,
Zied Riahi
,
+6 authors
A. Barakat
International Journal of Pediatric…
2018
Corpus ID: 52143473
2017
2017
A 7-year-old girl presenting with a Bartter-like phenotype: Answers
Yunsoo Choe
,
Eujin Park
,
+5 authors
H. Cheong
Pediatric nephrology (Berlin, West)
2017
Corpus ID: 36284048
The patient presented multiorgan-involving symptoms and signs sequentially: lower extremity muscle weakness at 3 years and 5…
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2014
2014
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
A. L. de Pablos
,
V. García-Nieto
,
J. C. López-Menchero
,
E. Ramos-Trujillo
,
H. González-Acosta
,
F. Claverie-Martín
Clinical Nephrology
2014
Corpus ID: 9541832
Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and…
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2011
2011
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.
C. Park
,
J. Lim
,
+5 authors
J. Lee
Clinical Nephrology
2011
Corpus ID: 24681605
Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype…
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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
Noime U Moleño
,
Tessie G Viloria
2008
Corpus ID: 56663915
This study was conducted to determine the BSND students’ perception on the adequacy of laboratories and facilities of the College…
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2006
2006
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.
S. Brum
,
J. Rueff
,
J. R. Santos
,
J. Calado
Nephrology, Dialysis and Transplantation
2006
Corpus ID: 228767
Watkins PJ. Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. Diabetes Care 2001; 24: 495–499 2…
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2004
2004
Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency*
R. Behr
,
John Brestelli
,
J. Fulmer
,
N. Miyawaki
,
T. Kleyman
,
K. Kaestner
Journal of Biological Chemistry
2004
Corpus ID: 43560331
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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