INTRODUCTION- Alkaptonuria is a rare metabolic disorder affecting 1 in 250,000 to 1 million people worldwide due to an autosomal recessive mutation of homogentisate oxidase gene, located on chromosome 3q21-q23. CASE REPORT- A 37 year old female came to the outpatient department with chief complaint of inability to move the left ankle and pain over the back of left ankle since 1week following a trivia
Alkaptonuria is an extremely rare condition, which is due to a defect in protein metabolism. The mos...
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...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Spontaneous Achilles tendon ruptures are uncommon. We present a 46-year-old man with spontaneous Ach...
Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic aci...
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria ...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
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...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
AbstractINTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis ...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes o...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Alkaptonuria is an extremely rare condition, which is due to a defect in protein metabolism. The mos...
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...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Spontaneous Achilles tendon ruptures are uncommon. We present a 46-year-old man with spontaneous Ach...
Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic aci...
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria ...
Abstract Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which...
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...
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive d...
AbstractINTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis ...
WOS: 000436882600003Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by ...
Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes o...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Alkaptonuria is an extremely rare condition, which is due to a defect in protein metabolism. The mos...
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...