A clinical workflow for cost-saving high-rate diagnosis of genetic kidney diseases
F Becherucci, S Landini, V Palazzo… - Journal of the …, 2023 - journals.lww.com
Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …
[HTML][HTML] Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives
J Münch, PR Goodyer, CA Wagner - Seminars in Nephrology, 2023 - Elsevier
The tubular system of the kidneys is a complex series of morphologic and functional units
orchestrating the content of tubular fluid as it flows along the nephron and collecting ducts …
orchestrating the content of tubular fluid as it flows along the nephron and collecting ducts …
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts
MH Vaisbich, ACHL Messa, AC Rangel-Santos… - Nephron, 2023 - karger.com
Background: Genetic testing is recommended for accurate diagnosis of Bartter syndrome
(BS) and serves as a basis for implementing specific target therapies. However, populations …
(BS) and serves as a basis for implementing specific target therapies. However, populations …
儿童期起病的Bartter 综合征1 型伴肾功能损害一例
彭晓艳， 陈朝英， 杨宏仙， 夏华， 涂娟 - 罕见病研究, 2024 - jrd.chard.org.cn
Bartter 综合征(BS, OMIM# 601678) 是一种罕见的遗传性失盐性肾病, 临床主要特点为低钾性
代谢性碱中毒, 伴继发性肾素-血管紧张素-醛固酮系统活化. BS 1 型根据报道多为产前型及新生 …
代谢性碱中毒, 伴继发性肾素-血管紧张素-醛固酮系统活化. BS 1 型根据报道多为产前型及新生 …
Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China (2023)
Rare Diseases Society of Chinese Research … - Journal of Rare …, 2024 - jrd.chard.org.cn
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by
secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis …
secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis …
Organization and implementation of a diagnostic care model for rare kidney diseases
L Cirillo - 2024 - flore.unifi.it
In this thesis, the accessibility, interpretation, and economic efficiency of Whole-Exome
Sequencing (WES) in the diagnosis of genetic kidney disorders are thoroughly evaluated …
Sequencing (WES) in the diagnosis of genetic kidney disorders are thoroughly evaluated …
[PDF][PDF] 40 AÑOS DE EXPERIENCIA EN SÍNDROME DE BARTTER 40 YEARS EXPERIENCE IN BARTTER'S SYNDROME
LG Espinosa, AZSJB Feito, M Melgosa - revistanefrologia.com
El síndrome de Bartter (SB) es una enfermedad rara con una incidencia aproximada de
1/1.000. 000 habitantes. En la actualidad el SB se clasifica en 5 tipos según la variante …
1/1.000. 000 habitantes. En la actualidad el SB se clasifica en 5 tipos según la variante …
[PDF][PDF] Gitelman Syndrome Combined with Congenital Chloride Losing Diarrhea Owning to Defective SLC12A3 and SLC26A3
N Li, S Zhang, J Zhou, Y Zhao, X Zhou, J Yu - Ann Clin Case Rep. 2023; … - anncaserep.com
Abstract Introduction: Gitelman Syndrome (GS) is a hypokalemic metabolic alkalosis with
significant hypomagnesemia, and low urinary calcium excretion and is associated with a …
significant hypomagnesemia, and low urinary calcium excretion and is associated with a …