nitisinone

Known as: Nitisinonum, 2-(alpha,alpha,alpha-Trifluoro-2-nitro-P-tuluoyl)-1,3-cyclohexanedione, nitisinone [Chemical/Ingredient] 
 
National Institutes of Health

Papers overview

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2016
2016
BACKGROUND Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering… (More)
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2014
2014
OBJECTIVE To examine cognitive functioning in patients with tyrosinemia type I treated with nitisinone and a protein-restricted… (More)
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2014
2014
BACKGROUND Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme… (More)
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Highly Cited
2011
Highly Cited
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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2011
2011
Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin… (More)
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2011
2011
A 19 year old woman with tyrosinaemia type 1 gave birth to a healthy girl after 41 weeks of gestation. Nitisinone was continued… (More)
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2006
2006
Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme… (More)
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Review
2005
Review
2005
Current research in drug discovery from medicinal plants involves a multifaceted approach combining botanical, phytochemical… (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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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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