Renal Aminoacidurias

Known as: Aminoacidurias, Renal, Renal Aminoaciduria, Renal Aminoacidurias [Disease/Finding] 
A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport… (More)
National Institutes of Health

Papers overview

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Review
2008
Review
2008
The transport of amino acids in kidney and intestine is critical for the supply of amino acids to all tissues and the homeostasis… (More)
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2007
2007
Defects in renal proximal tubule transport manifest in a number of human diseases. Although variable in clinical presentation… (More)
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2005
2005
BACKGROUND Familial renal glucosuria (FRG) is an isolated disorder of proximal tubular glucose transport, characterized by… (More)
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2001
2001
Fibrous dysplasia (FD) of bone is characterized by focal replacement of normal bone and marrow with abnormal bone and fibrous… (More)
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Highly Cited
2000
Highly Cited
2000
Nephrolithiasis (kidney stones) affects 5-10% of adults and is most commonly associated with hypercalciuria, which may be due to… (More)
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Highly Cited
1997
Highly Cited
1997
Four L-glutamate neurotransmitter transporters, the three Na(+)-dependent GLAST-1, GLT-1 and EAAC-1, and the Cl(-)-dependent EAAT… (More)
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Review
1997
Review
1997
Environmental and industrial lead exposures continue to pose major public health problems in children and in adults. Acute… (More)
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Highly Cited
1993
Highly Cited
1993
BACKGROUND Alcohol abuse may be accompanied by a variety of disorders of electrolyte and acid-base metabolism. The role of the… (More)
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Highly Cited
1977
Highly Cited
1977
Biochemical and morphologic studies on a patient with glutaric aciduria are presented. Generalized aminoaciduria, alpha… (More)
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Highly Cited
1964
Highly Cited
1964
Pathological findings are described in four cases of a new aminoaciduria in which homocystine is excreted in the urine. All the… (More)
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