• A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report
• A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria
• A shocking intraoperatively diagnosis of ochronotic knee arthropathy: a case report
• Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria
• Adequacy of nitisinone for the management of alkaptonuria
• Alkaptonuria
• Alkaptonuria
• Alkaptonuria
• Alkaptonuria - Past, present and future
• Alkaptonuria Diagnosis Following a Discectomy: A Case Report
• Alkaptonuria in an Elderly Presenting with Asynchronous Rupture of both Quadriceps Tendons and Chronic Kidney Failure: Case Report and Literature Review
• Alkaptonuria Presenting With Lumbar Disc Herniation: A Case Report
• Alkaptonuria with Fracture Neck of Femur - A Case Report
• Alkaptonuria: A rare cause of severe aortic stenosis treated by transcatheter aortic valve replacement
• Alkaptonuria: evolution and course of the disease towards ochronotic arthropathy. Series of cases managed with joint replacement
• Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform
• Alkaptonuria: Response to low-dose nitisinone in two patients with a new mutation
• Alkaptunuria; a case report
• Anaesthesia Considerations in a Case of Alkaptonuria Posted for Total Knee Arthroplasty
• Analysis of the Phenotype Differences in Siblings with Alkaptonuria
• Arthroplasty in Ochronotic Arthropathy: 3 Replacements in a Single Patient with a Long-term Follow-up of 11 Years
• Arthroscopic ankle arthrodesis in two alkaptonuria patients
• Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients
• Avulsive Achilles Tendon Rupture in a Patient With Alkaptonuria: A Case Report
• Bacterial quality of urinary tract in patients with alkaptonuria
• Bilateral Patellar Tendon Rupture Following Total Knee Arthroplasty in a Patient With Alkaptonuria: A Case Report
• Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)
• Black Bone Disease: Ochronotic Arthritis Detected during Knee Arthroplasty
• Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
• Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review
• Clinical presentation of 13 children with alkaptonuria
• Clinical significance of hypouricemia in children and adolescents
• Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment
• Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria
• Correction to "Clinical presentation of 13 children with alkaptonuria"
• Correction: Zatkova et al. Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Metabolites 2022, 12, 990
• Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites - A Review
• Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
• Descemet's membrane folds in ochronosis: a case report
• Detection of homogentisic acid by electrospray ionization mass spectrometry
• Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria
• Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide
• Disc-coloration of an ochronotic cervical intervertebral disc in a patient with alkaptonuria: Case report and review of the literature
• Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report
• Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
• Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial
• Exogenous Ochronosis from Skin-Lightening Cream
• Exogenous ochronosis successfully treated with the combination of intense pulsed light and fractional CO₂ laser
• Exogenous Ochronosis With Ocular Involvement From Chronic Use of Teavigo
• First decade anniversary of the United Kingdom National Alkaptonuria Centre
• Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria
• Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
• HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase
• Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
• Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy
• Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria
• Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index
• In-vivo Aortic Valve of a Patient with Alkaptonuria
• Increased prevalence of Parkinson's disease in alkaptonuria
• Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
• Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty
• Localized argyria with pseudo-ochronosis: A report of two cases highlighting involvement of elastic fibers
• Long-term follow-up of alkaptonuria patients: single center experience
• Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urine
• Minocycline induced discoloration of the aortic intima and valve: A case report
• Nitisinone
• Nitisinone
• Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients
• Nutritional interventions for patients with alkaptonuria: A minireview
• Ochronosis
• Ochronosis
• Ochronosis: A case report
• Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report
• Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review
• Ochronotic arthropathy of bilateral hip joints: A case report
• Ochronotic Chondropathy: A Case Report
• Ochronotic hip arthropathy - A case report
• Ocular Manifestations of Alkaptonuria
• Ocular Manifestations of Alkaptonuria
• Ocular Ochronosis in Alkaptonuria
• One-stage revision arthroplasty in a patient with ochronotic arthropathy accompanied by joint infection: A case report
• Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial
• Perioperative anaesthetic management of an elderly high-risk male with cardiac ochronosis undergoing aortic valve replacement with coronary artery bypass graft: A case report
• Perioperative anesthetic challenges in Alkaptonuria patient with comorbid conditions
• Pseudofilariasis, a Presenting Sign of Alkaptonuria
• Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
• Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via in- silico innovation
• Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations
• Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria
• Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report
• Spondyloarthropathies That Mimic Ankylosing Spondylitis: A Narrative Review
• Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria
• Surgical management of calcific valvular and coronary disease in a patient with alkaptonuria: a case report
• Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria
• The Discovery of the Mode of Action of Nitisinone
• Total Hip Arthroplasty for Ochronosis: A Report of Three Cases
• Total knee arthroplasty and physical therapy for arthropathy in alkaptonuria: A 4-year follow-up case report
• Total Knee Arthroplasty in Ochronosis: A Rare Condition
• Total Knee Replacement in Alkaptonuric Ochronosis
• Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria