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Last Updated: 10/31/2025

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Found 1382 publications

Alcaptonuria.

Alcaptonuria.

Journal: Internal medicine (Tokyo, Japan)
Published: October 01, 2025

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

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

Journal: International journal of molecular sciences
Published: August 27, 2025

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

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

Journal: Cureus
Published: August 21, 2025

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

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

Journal: Molecular genetics and metabolism
Published: August 05, 2025

Combined alkaptonuria and osteoporosis contributing to chronic back pain.

Combined alkaptonuria and osteoporosis contributing to chronic back pain.

Journal: Endocrinology, diabetes & metabolism case reports
Published: June 04, 2025

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

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

Journal: Journal of clinical medicine
Published: June 02, 2025

Alkaptonuria.

Alkaptonuria.

Journal: JAMA dermatology
Published: May 28, 2025

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

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

Journal: JACC. Case reports
Published: May 13, 2025

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

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

Journal: European journal of pharmacology
Published: May 07, 2025

Alkaptonuria: a rare disorder associated with common conditions.

Alkaptonuria: a rare disorder associated with common conditions.

Journal: Internal and emergency medicine
Published: April 16, 2025

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.

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.

Journal: Cureus
Published: April 13, 2025

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

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

Journal: medRxiv : the preprint server for health sciences
Published: March 31, 2025
Showing 1-12 of 1,382

Last Updated: 10/31/2025