Alkaptonuria

Known as: Alcaptonuria, Alkaptonuria [Disease/Finding], AKU 
A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in… (More)
National Institutes of Health

Papers overview

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2011
2011
Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the… (More)
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Highly Cited
2009
Highly Cited
2009
OBJECTIVE We studied whether or not spirituality/religiosity is a relevant resource for patients with chronic pain conditions… (More)
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Highly Cited
2007
Highly Cited
2007
OBJECTIVES Poor adherence is one of the biggest obstacles in therapeutic control of high blood pressure. The objectives of this… (More)
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2005
2005
Alkaptonuria, a rare autosomal recessive disorder caused by mutations in the HGD gene and deficiency of homogentisate 1,2… (More)
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Review
2005
Review
2005
Conjugated fatty acids have attracted much attention as a novel type of biologically beneficial functional lipid. Some isomers of… (More)
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Highly Cited
2004
Highly Cited
2004
This paper investigates the role of social learning in the diffusion of a new agricultural technology in Ghana. We use unique… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an… (More)
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Highly Cited
1996
Highly Cited
1996
Alkaptonuria (AKU) occupies a unique place in the history of human genetics because it was the first disease to be interpreted as… (More)
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Highly Cited
1996
Highly Cited
1996
MITF (microphthalmia–associated transcription factor) encodes a transcription factor with a basic–helix–loop–helix–zipper (bHLH… (More)
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1993
1993
Alkaptonuria, the first human disorder recognized by Garrod as an inborn error of metabolism, is a rare recessive condition that… (More)
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