Add to ORKGBackground: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves homogentisate 1,2 dioxygenase (HGD) deficiency resulting in homogentisic acid accumulation in the connective tissues (ochronosis). The classic triad of the disease is: i) homogentisic aciduria, ii) bluish-black pigmentation in tissues such as the sclera, cornea, cartilage and skin, and iii) degenerative arthropathy usually in the fourth decade of life. Case: In this case report, we present a 41-year-old man with diffuse musculoskeletal pain and additional clinical features in tissues such as the ear and urinary tract who was diagnosed late (>30 years). He was diagnosed with alkaptonuria based on clinical findings and elevated urinary homogent...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism ...
Ochronotic arthropathy is a rare condition found in patients with alkaptonuria. Due to the accumulat...
Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygena...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
A 56-year-old man presented to our orthopaedic clinic due to increasingly severe back pain. Physi-ca...
Alkaptonuria is a rare inborn error of metabolism caused by mutations in the gene responsible for th...
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is d...
Abstract: Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive d...
Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000–1 000 0...
AbstractINTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis ...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria ...
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 ...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism ...
Ochronotic arthropathy is a rare condition found in patients with alkaptonuria. Due to the accumulat...
Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygena...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homoge...
A 56-year-old man presented to our orthopaedic clinic due to increasingly severe back pain. Physi-ca...
Alkaptonuria is a rare inborn error of metabolism caused by mutations in the gene responsible for th...
Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is d...
Abstract: Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive d...
Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000–1 000 0...
AbstractINTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis ...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria ...
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 ...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism ...
Ochronotic arthropathy is a rare condition found in patients with alkaptonuria. Due to the accumulat...
Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygena...