Skip to search formSkip to main contentSkip to account menu

Aminoaciduria

Known as: aminoacidurias 
An increased concentration of an amino acid in the urine. [HPO:SKOEHLER]
National Institutes of Health

Related topics

Related topics

10 relations
Amino Acid Metabolism, Inborn ErrorsCytochrome-c Oxidase DeficiencyDent disease 1Hepatolenticular Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
Development of microwave-assisted derivatization followed by gas chromatography/mass spectrometry for fast determination of amino acids in neonatal blood samples.
Analysis of amino acids in blood samples is an important tool for the diagnosis of neonatal amino acid metabolism disorders. In… 
2005
2005
A y+LAT-1 mutant protein interferes with y+LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid (CAA) transport at the… 
2005
2005
Amino acid cotransporter SLC3A2 is selectively expressed in the early proximal segment of Xenopus pronephric kidney nephrons.
Review
2000
Review
2000
Heteromeric amino acid transporters explain inherited aminoacidurias
In the past 5 years, the first genes responsible for aminoacidurias caused by defects in renal reabsorption transport mechanisms… 
Review
1982
Review
1982
Disorders of proximal nephron function.
Highly Cited
1982
Highly Cited
1982
Electrophysiological analysis of rat renal sugar and amino acid transport
We have used electrophysiological techniques to study various aspects of the transport of glutamate and aspartate in proximal… 
1974
1974
Inhibition of entry of some amino acids into the brain, with observations on mental retardation in the aminoacidurias
SYSNOPSIS Abnormally high levels of various amino acids were maintained in the bloodstream of rats, causing saturation of amino… 
1973
1973
Antenatal diagnosis of argininosuccinic aciduria
Argininosuccinic aciduria (ASAuria) is an inherited disorder of ureogensis characterized by periodic hyperammonemia, seizures… 
1972
1972
Mass Screening for Genetic Disease
Automation has already brought our screening capability to the point where the same specimen can be used to detect a number of… 
1969
1969
Screening for aminoacidurias in psychiatric inpatients.
SCREENING for aminoacidurias has proven extremely valuable in eliciting biochemical causes for certain cases of mental… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)