Clinical presentation of 13 children with alkaptonuria
MJ Kujawa, D Świętoń, J Wierzba… - Journal of Inherited …, 2023 - Wiley Online Library
Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria
(AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive …
(AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive …
A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference
T Vanhove, M Aertgeerts, P Witters, D Rymen… - Biochemia …, 2024 - hrcak.srce.hr
Sažetak Alkaptonuria is characterized by the accumulation of homogentisic acid which
causes dark coloration of urine upon standing, ochronosis, and arthritis. A 4-year old child …
causes dark coloration of urine upon standing, ochronosis, and arthritis. A 4-year old child …
Alkaptonuria in an adolescent boy
G Sangeetha, S Chandran, S Ganesan… - BMJ Case Reports …, 2021 - casereports.bmj.com
Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is
one of the Garrod's tetrad of 'inborn errors of metabolism'proposed to have Mendelian …
one of the Garrod's tetrad of 'inborn errors of metabolism'proposed to have Mendelian …
[PDF][PDF] Alkaptonuria diagnosed in a geriatric patient; a case report
Alkaptonuria is a hereditary and metabolic disease which is characterised by ocranosis,
arthritis and aciduria. It is a rare clinical condition which has an estimated incidence varies …
arthritis and aciduria. It is a rare clinical condition which has an estimated incidence varies …
[PDF][PDF] An Enigmatic Color Change of Urine: Alkaptonuria
A Sultana, J Rumana, A Qader… - Journal of Pediatric …, 2022 - journals.sbmu.ac.ir
ABSTRACT ِCitationSultana A, Rumana J, Qader A, Shahidullah S, Rashid S, Majumder R.
An Enigmatic Color Change of Urine: Alkaptonuria. Journal of Pediatric Nephrology. 2022; …
An Enigmatic Color Change of Urine: Alkaptonuria. Journal of Pediatric Nephrology. 2022; …
[HTML][HTML] Nephrotic syndrome in a child with alkaptonuria
R Madhavan, S Palaniappan - Pediatric Oncall Journal, 2023 - pediatriconcall.com
Alkaptonuria is a rare inherited condition of tyrosine metabolism. It is characterised by
blackening of urine on contact with air. We herein report a case of nephrotic syndrome in a …
blackening of urine on contact with air. We herein report a case of nephrotic syndrome in a …
[PDF][PDF] Case Report An Enigmatic Color Change of Urine: Alkaptonuria
A Sultana, J Rumana, A Qader, S Shahidullah… - academia.edu
ABSTRACT ِCitationSultana A, Rumana J, Qader A, Shahidullah S, Rashid S, Majumder R.
An Enigmatic Color Change of Urine: Alkaptonuria. Journal of Pediatric Nephrology. 2022; …
An Enigmatic Color Change of Urine: Alkaptonuria. Journal of Pediatric Nephrology. 2022; …
[图书][B] Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemia
JH Hughes - 2020 - search.proquest.com
Alkaptonuria (AKU) is an ultra-rare, autosomal recessive metabolic bone disease
characterised by increased urinary and circulating homogentisic acid (HGA) caused by …
characterised by increased urinary and circulating homogentisic acid (HGA) caused by …