|1.||Santucci, Annalisa: 9 articles (09/2015 - 10/2010)|
|2.||Bernardini, Giulia: 8 articles (09/2015 - 10/2010)|
|3.||Braconi, Daniela: 8 articles (09/2015 - 10/2010)|
|4.||Laschi, Marcella: 7 articles (09/2015 - 10/2010)|
|5.||Millucci, Lia: 7 articles (09/2015 - 10/2010)|
|6.||Ranganath, Lakshminarayan R: 6 articles (09/2015 - 02/2011)|
|7.||Spreafico, Adriano: 6 articles (01/2014 - 10/2010)|
|8.||Gahl, William A: 6 articles (02/2012 - 09/2002)|
|9.||Gallagher, James A: 5 articles (09/2015 - 11/2010)|
|10.||Bernardini, Isa: 5 articles (12/2009 - 09/2002)|
04/01/2015 - "Alkaptonuria (AKU) is considered a rare autosomal recessive condition that results in an accumulation of homogentisic acid in body tissues and causes long-term clinical, neurological and psychological complications. "
05/01/2014 - "We have assessed the effect of elevated concentrations of homogentisic acid (HGA) as in alkaptonuria (AKU), on a range of routine chemistry tests in serum and urine. "
05/01/2014 - "Interferences of homogentisic acid (HGA) on routine clinical chemistry assays in serum and urine and the implications for biochemical monitoring of patients with alkaptonuria."
01/01/2014 - "She had elevated urinary excretion of homogentisic acid, diagnostic of alkaptonuria. "
10/01/2011 - "Although the diagnosis of alkaptonuria is not particularly challenging in view of the blue-black discolouration of visible connective tissue and the presence of homogentisic acid in urine, the natural history of alkaptonuria remains poorly understood. "
08/01/1990 - "Homogentisic acid (HGA) (50 mg/kg) was given orally to 22 obligate heterozygotes for hereditary tyrosinemia type 1 (HT) and to 11 controls. "
08/01/1990 - "Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I."
10/01/1975 - "But, they had an excessive amount of blood tyrosine (Tyr), and concurrently excreted massive homogentisic acid (HGA) in urine just as in human tyrosinemia alkaptonuria. "
01/01/2012 - ", there is no proven treatment for alkaptonuria but emergence of orphan drug legislation internationally has promoted the licensing of nitisinone (Orfadin™) for an equally rare disorder of tyrosine metabolism - hereditary tyrosinaemia type 1. Nitisinone, a triketone competitive inhibitor of a proximal step leading to the formation of homogentisic acid, has potent therapeutic effects in hereditary tyrosinemia and rapidly ameliorates the primary biochemical abnormality in patients with alkaptonuria.Here"
08/15/2005 - "In this bacterium, deletion of the homogentisate gene cluster (hmgRABC) confers upon this mutant huge biotechnological possibilities since it can be used: (i) as a target for testing new specific herbicides (p-hydroxy-phenylpyruvate dioxygenase inhibitors); (ii) to identify new therapeutic drugs-effective in the treatment of alkaptonuria and other related tyrosinemia - and (iii) as a source of homogentisic acid in a plant-bacterium association."
11/01/2014 - "Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as a chestnut brown or black pigmentation. "
01/01/2014 - "Ochronosis is a rare disorder which is defined as the deposition of metabolites of oxidation and polymerization of homogentisic acid, which have high affinity to collogen, in the connective tissues. "
10/01/2013 - "The accumulation of homogentisic acid in connective tissue causes the syndrome known as ochronosis, which is typically manifested by skin pigmentation, degenerative arthropathy and discolouration of urine. "
03/01/2011 - "Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues, giving them a deep dark blue pigmentation. "
12/01/2008 - "All affected individuals presented with typical features of AKU including darkening of the urine, ochronosis, arthropathy, and elevated urinary excretion of homogentisic acid. "
|4.||Rheumatic Diseases (Rheumatism)
|5.||Metabolic Diseases (Metabolic Disease)
12/01/2015 - "Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). "
01/01/2014 - "Ochronosis is an inherited metabolic disease in which there is an accumulation of excessive amounts of homogentisic acid in the connective tissue. "
07/01/2013 - "Ochronotic arthropathy is a rare condition found in patients with alkaptonuria, which is a hereditary metabolic disease associated with deposition the of homogentisic acid derivatives in various connective tissues of the body. "
12/01/2008 - "Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid. "
10/01/2006 - "Alkaptonuria is a rare inborn metabolic disease, which results in the derangement of homogentisic acid metabolism. "
|7.||Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)