Results 41 to 50 of about 7,435 (127)
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan
BioMed Research International, Volume 2021, Issue 1, 2021., 2021 Background. Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. Methods.
Raida Khalil +7 more
wiley +1 more source
Ochronotic Arthropathy: A Report of Two Cases
Southern Clinics of Istanbul Eurasia, 2020 Ochronosis is an entity characterized by deposition of homogentisic acid and metabolites in connective tissues, such as joint cartilage, skin and sclera.
Selma Şengiz Erhan +3 more
doaj +1 more source
Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria
Arthroplasty Today, 2020 Alkaptonuria is a rare autosomal recessive metabolic disorder. It is characterized by the accumulation of homogentisic acid in the body due to a lack of enzymes that degrade it.
Jihad M. Al-Ajlouni, MD, FRCS +8 more
doaj +1 more source
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage : a potential novel technique for monitoring ochronosis [PDF]
, 2019 Objective Alkaptonuria (AKU) is a rare, inherited disorder of tyrosine metabolism, where patients are unable to breakdown homogentisic acid (HGA), which increases systemically over time.
Jenks, Daniel +7 more
core +5 more sources
Knee ochronotic arthropathy and arthroscopic findings
Acta Orthopaedica et Traumatologica Turcica, 2020 Ochronotic arthropathy is a rare condition found in patients with alkaptonuria which is a hereditary metabolic disease associated with deposition of homogentisic acid derivatives in the articular cartilage, menisci, ligaments, and connective tissues due ...
Cemal Kural +4 more
doaj +1 more source
Ochronotic arthropathy with calcium pyrophosphate crystal deposition a light and electron microscopic study [PDF]
, 1973 Synovial fluid from a patient with ochronotic arthropathy and calcification of the capsule of the right knee contained calcium pyrophosphate crystals and dark debris.
Ralph Schumacher, H. +2 more
core +1 more source
Journal of Orthopaedic Reports, 2023 Background: Ochronotic Arthropathy is very rare disorder (around one in million people). It is due to deficiency of enzyme homogentisic acid oxidase which leads to accumulation of homogentisic acid (HGA) and causes damage of several connective tissues ...
Sanjeev Jain, Sabeel Ahmad, K. Vishwas
doaj +1 more source
, 2005 The deficiency of homogentisic acid oxidase, an enzyme that is mainly found in hepatocytes, is associated with alkaptonuria and ochronosis. We report a patient with clinical and radiologic findings of ochronotic arthropathy in whom alkaptonuria ...
Oder, G +4 more
core +2 more sources
Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review
Case Reports in Orthopedics, Volume 2019, Issue 1, 2019., 2019 Introduction. Ochronosis arthropathy (OcA) is a rare condition which may be treated with total knee arthroplasty (TKA) at the end stage. The condition is often discovered only intraoperatively and the ideal choice of TKA is unknown. Case Presentation.
Wu Chean Lee +3 more
wiley +1 more source
Black hip: a rare case treated by total hip replacement
Annals of Saudi Medicine, 2013 BACKGROUND AND OBJECTIVE: Ochronic arthropathy of hip (Black Hip) is a rare clinical manifestation of congenital disorder of amino acid metabolism characterized by a classic triad: (1) degenerative arthritis, (2) ochronotic pigmentation, and (3) urine ...
Narayana Gowda +2 more
doaj +1 more source