Add to ORKGThis study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria cases reported by the Biochemical Genetics Lab.An observational study was conducted at the Biochemical Genetics Lab. Alkaptonuria patients were diagnosed based on the homogentisic acid peak in urine and their demographics and clinical data collected from to 2013 to 2019. Clinical history related to joint diseases, ochronotic presentation, and urine darkening on standing was collected.During 7 years, 21 Alkaptonuria cases were reported from BGL; mean age 19.4 ± 24.5 years (range 0.2-66 years) and male to female ratio of 2:1. Of the total, only 9 were adults (mean age, 44 ± 12 years). Most adult patients had musculoskeletal involvement, with jo...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
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 (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Background: Alkaptonuria is a rare recessive autosomal metabolic disease that occurs due to a defici...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000–1 000 0...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
An elderly gentleman with chronic lower back and bilateral knee pain was found to have clinical and ...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...
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 (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-di...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Background: Alkaptonuria is a rare recessive autosomal metabolic disease that occurs due to a defici...
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxid...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000–1 000 0...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
An elderly gentleman with chronic lower back and bilateral knee pain was found to have clinical and ...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding f...
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system inv...
Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the...