Article

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

2024-09-15

Abstract excerpt

1 Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolized homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1ab7b700-e5bd-565e-b7c4-8b3c09be61fc
DOI: 10.1101/2024.09.11.612405

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and boneDOI 10.1101/2024.09.11.612405Read

Alkaptonuria, ochronosis, and ochronotic arthropathy.Semantic proximity Read

AlkaptonuriaSemantic proximity Read

Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic CartilageSemantic proximity Read

Alkaptonuria in Two Colombian Patients: Identification of HGD Variants Including a Novel FindingSemantic proximity Read

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.Semantic proximity Read

Alkaptonuria: From Molecular Insights to a Dedicated Digital PlatformSemantic proximity Read

Presentation of 14 alkaptonuria patients from Turkey.Semantic proximity Read

Identification of ochronosis, its inhibition by nitisinone, and the use of surgical and chemical interventions in murine models of alkaptonuriaSemantic proximity Read

Cartilage diseases.Semantic proximity Read

Natural history of alkaptonuria revisited: analyses based on scoring systemsSemantic proximity Read

Lessons from rare diseases of cartilage and bone.Semantic proximity Read

Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemiaSemantic proximity Read