Add to ORKGAlkaptonuria is an extremely rare condition, which is due to a defect in protein metabolism. The most probable explanation is that it is due to the absence of the particular enzyme which normally effects a particular stage in the complete destruction of tyrosine and phenyl-alanine. Alkapton is the inter-mediate product beyond which metabolism can no further go, and it is excreted as such in the urine. The d-fect is congenital and it is inherited, although the line of inheritance is difficult to trace. Transmission is seldom direct from parent to child, but several children in one family may be affected. Con-sanguinity between parents seems to have some responsibility for its occurrence. It is probably a Mendelian recessive characteristic. I...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phen...
AbstractAlkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented wi...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to con...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
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...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxida...
Rare diseases by definition are pathologies that affect small numbers of people in the worldwide. Th...
Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with histo...
the mediastinal mass of a patient with alkaptonuria Alkaptonuria (AKU) is a rare autosomal recessive...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phen...
AbstractAlkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented wi...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to con...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
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...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxida...
Rare diseases by definition are pathologies that affect small numbers of people in the worldwide. Th...
Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with histo...
the mediastinal mass of a patient with alkaptonuria Alkaptonuria (AKU) is a rare autosomal recessive...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phen...
AbstractAlkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented wi...