Ocular Ochronosis in Alkaptonuria: Two Case Reports.

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study.

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.

[Intraoperative diagnosis of alkaptonuria during lumbar disc surgery: A case report].

Intermittent dark urine in a school-aged boy: a case of alkaptonuria.

Femoral head ochronotic pigmentation in a patient with alkaptonuria and secondary hip osteoarthritis.

Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria.

Polychondritis and Arthritis in a Patient with Coexisting Alkaptonuria and Psoriasis Vulgaris.

Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report.

Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review.

A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report.

Alkaptonuria and Cervical Disc Herniation: Case Report.

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants.

Clinical Images: Alkaptonuria: a conundrum.

Functional Characterization of HGD Gene Variants by Minigene Splicing Assay.

From black urine to bladder obstruction: multidisciplinary management of extensive stone formation in alkaptonuria.

Cervicosacral stabilisation in alkaptonuria: seven-year surgical management of multisystem ochronosis including joint arthroplasties.

Surgical management of spinal ochronosis: A case series of surgical interventions and outcomes.

A Rare Diagnosis in a Resource-Limited Setting: Alkaptonuria in a Young Dominican Child.

Rheumatic manifestations of alkaptonuria: clinical, genetic and capillaroscopic characterisation of a referral centre cohort reveals new capillaroscopic marker of the disease.

Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation.

Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient.

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.

Musculoskeletal Manifestations of Alkaptonuria: A Case-Based Review of Literature.

Combined alkaptonuria and osteoporosis contributing to chronic back pain.

Total Joint Arthroplasty in Ochronotic Arthritis of Lower Extremities.

A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria.

Treatment of Ochronotic Osteoarthropathy and the Evaluation of Selected Lower Limb Muscle Properties, Including the Patellar Tendon: A Case Report and Mini Literature Review.

Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria.

Alkaptonuria: a rare disorder associated with common conditions.

Transcatheter Aortic Valve Implantation in Alkaptonuria-Аssociated Severe Aortic Stenosis: A 2.5-Year Follow-Up Case Report and Literature Review.

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.

Intraoperative Findings in Total Hip Arthroplasty Leading to a Diagnosis of Alkaptonuria in a Patient With Severe Hip Osteoarthritis Initially Attributed to Rheumatoid Arthritis: A Case Report.

A Comprehensive In Vitro and In Silico Approach for Targeting 4-Hydroxyphenyl Pyruvate Dioxygenase: Towards New Therapeutics for Alkaptonuria.

Analysis of Interactions Between Pyomelanin and the Extracellular Matrix in an Ex Vivo Turkey Tendon Model.

Efficacy and safety of Nitisinone for patients with alkaptonuria: A systematic review with metanalysis.

Anopheles mosquito survival and pharmacokinetic modeling show the mosquitocidal activity of nitisinone.

From Chronic Use of Minocycline to Pigmented Unicuspid Aortic Valve: A Unique Single Case.

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

Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.

Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment.

Integrated Clinomics and Molecular Dynamics Simulation Approaches Reveal the SAA1.1 Allele as a Biomarker in Alkaptonuria Disease Severity.

Effectiveness of Kidney Transplantation in Treating Alkaptonuric Skin Ochronosis.

Total Hip Arthroplasty in Ochronotic Arthropathy with quadriceps tear. A Case Report with a Review of the Literature.

Alkaptonuria: Clinical Spectrum of a Diagnosed Case in Bahrain With a Literature Review.

Alkaptonuria. Description of 2 cases of a rare entity.

Targeted and untargeted urinary metabolomics of alkaptonuria patients using ultra high-performance liquid chromatography-tandem mass spectrometry.

Diagnosing alkaptonuria-related nephropathy with urine albumin analysis.

Alkaptonuria presenting as lumbar degenerative disease: A case report and literature review.

Ochronotic Arthropathy of the Shoulder - A Rare Case Report.

The effects of age and sex on active and passive hip range of motion in individuals with alkaptonuria.

Exploring the Osteoinductive Potential of Bacterial Pyomelanin Derived from Pseudomonas aeruginosa in a Human Osteoblast Model.

[Total hip arthroplasty secondary to ocronotic arthropathy. A case report].

Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.

Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.

Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.

Non-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report.

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.

Blackish Discoloration of Articular Cartilage during Total Knee Replacement; a Case Report.

Finding ochronotic sclera and ear discoloration in a 75-year-old man leads to a diagnosis of alkaptonuria.

Black tendon-identifying a rare autosomal recessive disorder: Intraoperative diagnosis of alkaptonuria: A case report.

Direct repair of the chronic ochronotic Achilles tendon rupture: a case report.

Alkaptonuric Ochronosis: A case-based review.

A case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.

A heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease.

Exogenous Ochronosis With Vitiligo: A Therapeutic Challenge.

An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.

Amyloid-like Aggregation Propensities of Metabolites- Homogentisic Acid, N-Acetyl Aspartic Acid and Isovaleric Acid.

Evaluation of a casein glycomacropeptide-based protein substitute, in the dietary management of NTBC-induced tyrosinaemia in patients with alkaptonuria: A prospective open-label study.

A rare differential diagnosis of aortic stenosis with a black aortic valve: A case report.

HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model.

Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.

Pigmented eyelid lesions in alkaptonuria.

Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria.

Perioperative anaesthetic management of an elderly high-risk male with cardiac ochronosis undergoing aortic valve replacement with coronary artery bypass graft: A case report.

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.

Avulsive Achilles Tendon Rupture in a Patient With Alkaptonuria: A Case Report.

Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via in- silico innovation.

Anaesthesia Considerations in a Case of Alkaptonuria Posted for Total Knee Arthroplasty.

Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform.

Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report.

Alkaptonuria with Fracture Neck of Femur - A Case Report.

Pseudofilariasis, a Presenting Sign of Alkaptonuria.

Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.

Disc-coloration of an ochronotic cervical intervertebral disc in a patient with alkaptonuria: Case report and review of the literature.

A shocking intraoperatively diagnosis of ochronotic knee arthropathy: a case report.

Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria.

Arthroplasty in Ochronotic Arthropathy: 3 Replacements in a Single Patient with a Long-term Follow-up of 11 Years.

Surgical management of calcific valvular and coronary disease in a patient with alkaptonuria: 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 Diagnosis Following a Discectomy: A Case Report.

Ochronotic Chondropathy: A Case Report.

Arthroscopic ankle arthrodesis in two alkaptonuria patients.

Detection of homogentisic acid by electrospray ionization mass spectrometry.

Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report.

Alkaptonuria Presenting With Lumbar Disc Herniation: A Case Report.

Black Bone Disease: Ochronotic Arthritis Detected during Knee Arthroplasty.

[Alkaptonuria: evolution and course of the disease towards ochronotic arthropathy. Series of cases managed with joint replacement].

Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Spondyloarthropathies That Mimic Ankylosing Spondylitis: A Narrative Review.

Acute-Onset Multifocal Hand Dysfunction Due to Alkaptonuria.

Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients.

Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial.

Increased prevalence of Parkinson's disease in alkaptonuria.

Clinical presentation of 13 children with alkaptonuria.

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).

Localized argyria with pseudo-ochronosis: A report of two cases highlighting involvement of elastic fibers.

Bilateral Patellar Tendon Rupture Following Total Knee Arthroplasty in a Patient With Alkaptonuria: A Case Report.

Alkaptonuria - Past, present and future.

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations.

A Previously Undiagnosed Case of Alkaptonuria in an 80-Year-Old Patient: A Case Report.

Total Hip Arthroplasty for Ochronosis: A Report of Three Cases.

Exogenous Ochronosis With Ocular Involvement From Chronic Use of Teavigo.

Clinical significance of hypouricemia in children and adolescents.

Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites - A Review.

Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy.

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.

Nutritional interventions for patients with alkaptonuria: A minireview.

Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria.

Ochronotic hip arthropathy - A case report.

First decade anniversary of the United Kingdom National Alkaptonuria Centre.

Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report.

Total Knee Arthroplasty in Ochronosis: A Rare Condition.

Ochronotic arthropathy of bilateral hip joints: A case report.

Total knee arthroplasty and physical therapy for arthropathy in alkaptonuria: A 4-year follow-up case report.

Case report: Thoracolumbar spinal stenosis associated with alkaptonuria.

Alkaptonuria: A rare cause of severe aortic stenosis treated by transcatheter aortic valve replacement.

Bacterial quality of urinary tract in patients with alkaptonuria.

Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria-a mini-review.

Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide.

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria.

Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies.

A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.

Minocycline induced discoloration of the aortic intima and valve: A case report.

Alkaptunuria; a case report.

Analysis of the Phenotype Differences in Siblings with Alkaptonuria.

Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria.

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.

The Discovery of the Mode of Action of Nitisinone.

Exogenous ochronosis successfully treated with the combination of intense pulsed light and fractional CO2 laser.

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.

Alkaptonuria: Response to low-dose nitisinone in two patients with a new mutation.

Descemet's membrane folds in ochronosis: a case report.

Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.

One-stage revision arthroplasty in a patient with ochronotic arthropathy accompanied by joint infection: A case report.

HGDiscovery: An online tool providing functional and phenotypic information on novel variants of homogentisate 1,2- dioxigenase.

Ochronotic arthropathy in the context of spondyloarthritis differential diagnosis: a case-based review.

Adequacy of nitisinone for the management of alkaptonuria.

Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment.

Method development and validation for analysis of phenylalanine, 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid in serum and urine.

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients.

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index.

Ocular Ochronosis in Alkaptonuria.

Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria.

In-vivo Aortic Valve of a Patient with Alkaptonuria.

Perioperative anesthetic challenges in Alkaptonuria patient with comorbid conditions.

Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.

Long-term follow-up of alkaptonuria patients: single center experience.

Total Knee Replacement in Alkaptonuric Ochronosis.

[Ochronosis: A case report].

[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].

Case Report: First Documented Hip Arthroplasty on Chinese Patient with Ochronotic Arthropathy.

Total Shoulder Reverse Arthroplasty in Alkaptonuria: An Effective Option to Treat a Complication of a Rare Disease.

A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.

Reverse total shoulder arthroplasty for treatment of ochronotic arthropathy.

New insights and advances on pyomelanin production: from microbial synthesis to applications.

Incidental diagnosis of ochronosis by aortic valve replacement.

Blue man: Ochronosis in Otolaryngology.

Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression.

Clinical and Surgical Insights on Bilateral Total Knee Arthroplasty in Ochronotic Arthropathy: A Case-based Review.

Ochronotic Surprise during Total Knee Replacement! A Case Report.

Black urine-alkaptonuria.

THE USE OF NEAR INFRARED SPECTROSCOPY IN ALKAPTONURIA - THE MISLEADING OCHRONOSIS - A CASE REPORT AND LITERATURE REVIEW.

Characterization of changes in the tyrosine pathway by 24-h profiling during nitisinone treatment in alkaptonuria.

Basophilic, Thickened Collagen Bundles Seen in Late-Stage Exogenous Ochronosis.

A Case of Alkaptonuria Diagnosed in the 6th Decade - A Clinico-Dermoscopic-Histopathological View.

Computational Approaches Integrated in a Digital Ecosystem Platform for a Rare Disease.

Sarcoidal granuloma on exogenous ochronosis.

The black root: Aortic valve sparing in alkaptonuria.

[Alkaptonuria: Don't just think about it in childhood].

Neglected alkaptonuric patient presented with low back pain and radiculopathy: A case report.

Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients.

Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.

Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria-An approach using statistical modelling.

Effects of a protein-restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria.

Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation.

Alkaptonuria with rapidly destructive arthropathy of the hip: A case report and literature review.

Musculoskeletal manifestations in Alkaptonuria: A cross-sectional study.

Treatment of osteoporotic fractures in alkaptonuria by teriparatide stimulates bone formation and decreases fracture rate - A report of two cases.

Dogliotti and Phillips classifications are unsuitable for grading the histopathological findings of exogenous ochronosis.

Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium.