Add to ORKGAlkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage and other connective tissues. An association of the disease with uveitis has never been reported. We report the first case of alkaptonuria with ochronotic arthropathy presenting with recurrent acute anterior uveitis as the initial manifestation. The possible common link with the HLA-B27 gene is discussed
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
PubMed ID: 7641516Ochronotic arthropathy (spondylosis or peripheral arthropathy) is a late complicat...
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is d...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to con...
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria ...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000–1 000 0...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
PubMed ID: 7641516Ochronotic arthropathy (spondylosis or peripheral arthropathy) is a late complicat...
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is d...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to con...
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria ...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000–1 000 0...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Alkaptonuria (AKU) is a disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
PubMed ID: 7641516Ochronotic arthropathy (spondylosis or peripheral arthropathy) is a late complicat...
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is d...