|1.||Bernardini, Giulia: 10 articles (11/2015 - 10/2010)|
|2.||Santucci, Annalisa: 10 articles (11/2015 - 10/2010)|
|3.||Millucci, Lia: 10 articles (11/2015 - 10/2010)|
|4.||Braconi, Daniela: 10 articles (11/2015 - 10/2010)|
|5.||Laschi, Marcella: 6 articles (09/2015 - 10/2010)|
|6.||Spreafico, Adriano: 6 articles (01/2014 - 10/2010)|
|7.||Gallagher, James A: 5 articles (09/2015 - 10/2010)|
|8.||Ranganath, Lakshminarayan R: 5 articles (09/2015 - 12/2011)|
|9.||Lupetti, Pietro: 5 articles (09/2015 - 11/2012)|
|10.||Bernardini, Isa: 5 articles (12/2009 - 09/2002)|
06/01/2012 - "This study was conducted to identify mutations in the homogentisate 1,2 dioxygenase gene (HGD) in alkaptonuria patients among Jordanian population. "
09/01/2015 - "Alkaptonuria (AKU) is caused by deficiency of the enzyme homogentisate 1,2 dioxygenase. "
09/01/2015 - "Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria."
03/01/2014 - "Alkaptonuria is a rare autosomal recessive disorder of the metabolism caused by deficiency of homogentisic acid oxidase. "
01/01/2014 - "Alkaptonuria (AKU) is an inborn error of catabolism due to a deficient activity of homogentisate 1,2-dioxygenase. "
07/01/2010 - "Ochronosis is a rare genetic metabolic disorder resulting from a constitutional lack of homogentisic acid oxidase and subsequent accumulation of its substrate causing destruction of connective tissues with various systemic abnormalities. "
03/01/2014 - "Alkaptonuria or Ochronosis is an autosomal recessive congenital metabolic error due to absence of enzyme homogentisic acid oxidase. "
03/01/2014 - "Ochronosis is a term used to describe pigment deposition that occurs in the connective tissues of patients with alkaptonuria, an autosomal recessive disorder that results from a deficiency of homogentisic acid oxidase. "
01/01/2014 - "Alkaptonuria or ochronosis is a rare inborn disorder of metabolism which is characterized by deficiency of homogentisic acid oxidase. "
01/01/2012 - "Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). "
|3.||Metabolic Diseases (Metabolic Disease)
09/26/1995 - "Our results strongly suggest human homogentisate dioxygenase as a target for HT1 therapy and illustrate the usefulness of this fungus as an alternative to animal models for certain aspects of human metabolic diseases."
11/01/2015 - "Alkaptonuria (AKU) is a rare metabolic disease due to a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD), involved in Phe and Tyr catabolism. "
05/01/2012 - "Alkaptonuria is a rare hereditary metabolic disease of autosomal recessive inheritance, resulting from deficiency of the enzyme homogentisic acid oxidase. "
03/01/2008 - "Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. "
05/01/1988 - "Alkaptonuria is a rare autosomal recessive metabolic disease, due to the lack of homogentisic acid oxidase. "
01/01/2003 - "The deficiency of homogentisate 1,2-dioxygenase activity causes homogentisic aciduria, ochronosis and arthritis. "
04/01/1998 - "AKU patients are deficient for homogentisate 1,2 dioxygenase (HGO); this deficiency causes homogentisic aciduria, ochronosis, and arthritis. "
01/01/2015 - "Due to the homogentisic acid oxidase deficiency, homogentisic acid accumulates in cartilage and connective tissues which leads to ochronotic arthritis. "
12/01/2011 - "Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. "
07/01/2008 - "Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis. "
|5.||Rare Diseases (Rare Disease)
07/01/2009 - "Alkaptonuria is a rare disease in which the body does not have enough of an enzyme called homogentisic acid oxidase. "
01/01/1995 - "Ochronosis is a rare disease caused by an inherited lack of homogentisic acid oxidase. "
11/01/2012 - "Alkaptonuria (AKU) is an ultra-rare disease developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces a HGA-melanin ochronotic pigment, of unknown composition. "
|7.||Aromatic Amino Acids (Aromatic Amino Acid)
|8.||Tyrosine Transaminase (Tyrosine Aminotransferase)
|9.||Messenger RNA (mRNA)