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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
Amino acid cotransporter SLC3A2 is selectively expressed in the early proximal segment of Xenopus pronephric kidney nephrons.
1992
1992
sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis.
A mouse mutant with sarcosinemia was found by screening the progeny of ethylnitrosourea-mutagenized mice for aminoacidurias… 
Review
1989
Review
1989
The role of chromatography and electrophoresis in biomedical sciences.
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… 
1968
1968
Detection of metabolic disorders. Chromatographic procedures and interpretation of results.
A scheme for detection of metabolic disorders utilizing commercial dip tests, spot plate tests, and paper chromatographic tests… 
Review
1963
Review
1963
The renal aminoacidurias.
The normal mechanisms whereby the renal tubules handle amino acids are reviewed as a basis for interpretation of the physiologic… 
Review
1963
Review
1963
Aminoaciduria in familial mental retardation.
Introduction A constant search has been going on in order to attempt to establish the metabolic basis of disturbances of the… 
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