Disease: Alkaptonuria
- A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria
- 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
- 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: 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: Response to low-dose nitisinone in two patients with a new mutation
- Alkaptunuria; a case report
- 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
- 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
- Black urine-alkaptonuria
- Blue man: Ochronosis in Otolaryngology
- Case Report: First Documented Hip Arthroplasty on Chinese Patient with Ochronotic Arthropathy
- Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
- Clinical and Surgical Insights on Bilateral Total Knee Arthroplasty in Ochronotic Arthropathy: A Case-based Review
- 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"
- 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
- Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids
- 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 CO<sub>2</sub> 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
- Incidental diagnosis of ochronosis by aortic valve replacement
- Increased prevalence of Parkinson's disease in alkaptonuria
- Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
- 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
- Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression
- 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
- New insights and advances on pyomelanin production: from microbial synthesis to applications
- 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
- Ochronotic Surprise during Total Knee Replacement! 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
- Perioperative anesthetic challenges in Alkaptonuria patient with comorbid conditions
- Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone
- Reverse total shoulder arthroplasty for treatment of ochronotic arthropathy
- 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
- THE USE OF NEAR INFRARED SPECTROSCOPY IN ALKAPTONURIA - THE MISLEADING OCHRONOSIS - A CASE REPORT AND LITERATURE REVIEW
- 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
- Total Shoulder Reverse Arthroplasty in Alkaptonuria: An Effective Option to Treat a Complication of a Rare Disease
- Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria