Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of much less than ochronotic pigment much greater than especially in connective tissue as a result of deficieny of the much less than homogentisic acid oxidase much greater than enzyme which has a role in the catabolism of tyrosine and phenylalanine. A compound heterozygote alkaptonuria patient, with manifestations In adulthood, without infantile and childhood signs is presented. The described alkaptonuria mutations are reported for the first time in the Turkish population
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Rare diseases by definition are pathologies that affect small numbers of people in the worldwide. Th...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to con...
Alkaptonuria is an extremely rare condition, which is due to a defect in protein metabolism. The mos...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonüri, nadir görülen otozomal resesif geçişli bir doğumsal metabolizma hastalığıdır. Tirozin v...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Rare diseases by definition are pathologies that affect small numbers of people in the worldwide. Th...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to con...
Alkaptonuria is an extremely rare condition, which is due to a defect in protein metabolism. The mos...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonüri, nadir görülen otozomal resesif geçişli bir doğumsal metabolizma hastalığıdır. Tirozin v...
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Rare diseases by definition are pathologies that affect small numbers of people in the worldwide. Th...