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Renal Tubular Transport, Inborn Errors

Known as: Renal Tubular Transport, Inborn Error, Kidney Tubular Transport, Inborn Errors, Kidney Tubular Transport, Inborn Error 
Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
National Institutes of Health

Related topics

Related topics

21 relations

Narrower (14)

Congenital Nephrogenic Diabetes InsipidusCystinuriaDonnai-Barrow syndromeHypomagnesemia 2, renal
In BloodMicrobiologicalchemically inducednursing therapy

Broader (1)

Kidney Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors
Next Generation Sequencing studies generate a large quantity of genetic data in a relatively cost and time efficient manner and… 
2013
2013
Outcome Of Unrelated Umbilical Cord Blood Transplantation For Children With Osteopetrosis: An Eurocord and Inborn Errors Working Party (IEWP)-EBMT Study
Osteopetrosis (OP) is a genetic disease characterized by increased bone density due to osteoclast dysfunction, leading to life… 
Highly Cited
2012
Highly Cited
2012
Analysis of regression confidence intervals and Bayesian credible intervals for uncertainty quantification
Confidence intervals based on classical regression theories augmented to include prior information and credible intervals based… 
Review
2008
Review
2008
Genetic polymorphisms of the RAS-cytokine pathway and chronic kidney disease
Chronic kidney disease (CKD) in children is irreversible. It is associated with renal failure progression and atherosclerotic… 
2008
2008
Estimating and clustering curves in the presence of heteroscedastic errors
The technique introduced in this paper is a means for estimating and discovering underlying patterns for a large number of curves… 
2002
2002
A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin.
We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion… 
Review
2001
Review
2001
Mechanism of fenretinide (4-HPR)-induced cell death
Abstract4-HPR (fenretinide) is a synthetic analog of retinoic acid (RA) whose potential as a chemopreventative agent has gained… 
2000
2000
Biases in estimating the effect of cumulative exposure in log-linear models when estimated exposure levels are assigned.
OBJECTIVES Exposure-response trends in occupational studies of chronic disease are often modeled via log-linear models with… 
1993
1993
Motor response variations: peripheral and central sources of error.
The purpose of this research was to test the hypothesis that the relative involvement of peripheral versus central nervous system… 
1991
1991
Ion beam probe for measurement of wiggler errors
Precise characterization of wiggler field errors is needed in order to perform compensations. The traditional method, which… 
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