Results 21 to 30 of about 7,435 (127)

Artropatia ocronótica Ochronotic arthropathy [PDF]

Acta Ortopédica Brasileira, 2006
Os autores apresentam o relato de caso de um paciente com artropatia ocronótica. A ocronose é uma doença rara, de herança autossômica recessiva, manifestação clínica da alcaptonúria.
Fernando Peres A. Gonçalves, Fabiano Rebouças Ribeiro, Cantídio Salvador Filardi, Rômulo Brasil Filho   +3 more
doaj   +2 more sources

Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy [PDF]

Arthroplasty Today, 2020
Alkaptonuria is a rare metabolic disorder caused by the deficiency of homogentisic acid oxidase enzyme, which is responsible for eliminating homogentisic acid from the body through the renal system.
Imran Ilyas, MD, Syed Kashif, MD, Majed F. Algashiri, MD, Samar A. Rabbani, MD, Sahar S. Aldakhil, MD, Omar A. Al-Mohrej, MD   +5 more
doaj   +2 more sources

Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment [PDF]

EFORT Open Reviews
Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage.
Khaled Hamed Salem, Alyaa Diaa Elmoghazy
doaj   +2 more sources

Ochronotic Arthropathy of the Shoulder – A Rare Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature. Case Report: We report a 31-year-
Ayyappan V Nair, Kiran V, Aravind Rajan, Bharath Bharadwaj MS, Manisha Ashwin Daware, Prince Shanavas Khan   +5 more
doaj   +2 more sources

Case Report: Ochronotic arthropathy mimicking spondyloarthritis: a case-based review of diagnostic pitfalls and a novel likely pathogenic HGD variant [PDF]

Frontiers in Genetics
BackgroundAlkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by homogentisate 1,2-dioxygenase (HGD) deficiency, leading to pigment deposition and progressive ochronotic arthropathy (OchA), which may mimic chronic inflammatory or ...
Zhicheng Liu, Xinyu Xu, Yifan Yang, Sha Li, Ru Bai, Zhenghua Zhang, Yulong Guo, Ruomei Cui, Jian Xu, Shuang Liu   +9 more
doaj   +2 more sources

Ochronotic Arthropathy of the Knee: A Case Report [PDF]

Orthopaedic Journal of Sports Medicine
Alkaptonuria (AKU) is a low-prevalence genetic inherited disease expressed in an autosomal recessive and monogenic manner, characterized by a tissue accumulation of homogentisic acid (HGA).
MARZO NUNES SANTOS, RICARDO DAVID COUTO, DANIELE BRUSTOLIM   +2 more
doaj   +2 more sources

Sacroiliac joint involvement in ochronotic arthropathy [PDF]

European Journal of Rheumatology, 2021
Tuba Yüce İnel, Ali Balcı, İsmail Sarı   +2 more
doaj   +2 more sources

Non-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report [PDF]

Advanced Biomedical Research
Alkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint.
Ramin Shayan-Moghadam, Hasan Zolghadr, Erfan Babaei-Nejad, Hossein Shafiee   +3 more
doaj   +2 more sources

First Documented Hip Replacement in a Palestinian Patient with Ochronotic Alkaptonuria Arthropathy: A Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Alkaptonuria (AKU) is a genetic disease caused by a deficiency in the homogentisate 1,2-dioxygenase enzyme. This deficiency leads to elevated levels of homogentisic acid and its oxidized form, benzoquinone acetic acid.
Saleh Shalalfa, Neveen Shalalfa, Javid Mohammadzadeh Azarabadi, Ahmed Nafiz Barakat   +3 more
doaj   +2 more sources

Reverse total shoulder arthroplasty for treatment of ochronotic arthropathy. [PDF]

J Surg Case Rep, 2022
Butterfield BP, Garver TH.
europepmc   +2 more sources