SummaryAlkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism, was the first disease to be interpreted as an inborn error of metabolism. AKU patients are deficient for homogentisate 1,2 dioxygenase (HGO); this deficiency causes homogentisic aciduria, ochronosis, and arthritis. We cloned the human HGO gene and characterized two loss-of-function mutations, P230S and V300G, in the HGO gene in AKU patients. Here we report haplotype and mutational analysis of the HGO gene in 29 novel AKU chromosomes. We identified 12 novel mutations: 8 (E42A, W97G, D153G, S189I, I216T, R225H, F227S, and M368V) missense mutations that result in amino acid substitutions at positions conserved in HGO in different species, 1 (F10fs) ...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
SummaryAlkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism, was ...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria (AKU) is a rare metabolic disorder caused by a deficient enzyme in the tyrosine degrada...
Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumul...
SummaryWe recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the hom...
Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumul...
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxy...
Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic ac...
Background. Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations i...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 ...
© 2014 Habbal et al.Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemi...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
SummaryAlkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism, was ...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria (AKU) is a rare metabolic disorder caused by a deficient enzyme in the tyrosine degrada...
Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumul...
SummaryWe recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the hom...
Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumul...
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxy...
Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic ac...
Background. Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations i...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 ...
© 2014 Habbal et al.Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemi...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...