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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.
Review
2008
Review
2008
Aminoacidurias: Clinical and molecular aspects.
Inherited aminoacidurias are caused by defective amino-acid transport through renal (reabsorption) and in many cases also small… 
Review
2005
Review
2005
The molecular basis of neutral aminoacidurias
Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on… 
Review
2004
Review
2004
Lysinuric protein intolerance: mechanisms of pathophysiology.
Review
2001
Review
2001
The molecular bases of cystinuria and lysinuric protein intolerance.
Review
2001
Review
2001
Heteromeric amino acid transporters: biochemistry, genetics, and physiology.
The heteromeric amino acid transporters (HATs) are composed of two polypeptides: a heavy subunit (HSHAT) and a light subunit… 
Review
1998
Review
1998
Molecular biology of mammalian plasma membrane amino acid transporters.
Molecular biology entered the field of mammalian amino acid transporters in 1990-1991 with the cloning of the first GABA and… 
Highly Cited
1996
Highly Cited
1996
Obligatory Amino Acid Exchange via Systems bo,+-like and y+L-like
Mutations in the rBAT gene cause type I cystinuria, a common inherited aminoaciduria of cystine and dibasic amino acids due to… 
Highly Cited
1980
Highly Cited
1980
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies.
1973
1973
Antenatal diagnosis of argininosuccinic aciduria
Argininosuccinic aciduria (ASAuria) is an inherited disorder of ureogensis characterized by periodic hyperammonemia, seizures… 
Highly Cited
1966
Highly Cited
1966
Hyper-beta-alaninemia associated with beta-aminoaciduria and gamma-aminobutyricaciduaia, somnolence and seizures.
Hyper-beta-alaninemia was found in a somnolent, convulsing infant. Hyper-beta-aminoaciduria (beta-ala, betaAIB and taurine) was… 
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