Results 81 to 90 of about 4,051 (207)
Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report
Frontiers in Medicine, 2023 Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism characterized by multilevel spinal degeneration and arthritis of large weight-bearing joints, which is referred to as ochronotic arthropathy.
Yikai Liu +4 more
doaj +1 more source
The catalase protein of acatalasemic and hypocatalasemic red blood cells. I. Quantitative precipitin studies on hemolysate and acetone extract [PDF]
, 1964 In order to know the precise quantity of catalase protein in acatalasemic and hypocatalasemic blood, immunological studies were conducted using hemolysates or acetone extracts of those blood as antigen.
Ogata, Masana, Takahara, Shigeo
core +1 more source
NutrientsIntroduction: Protein nutrition disorder in alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone therapy and increased tyrosine (TYR) during nitisinone therapy, may benefit from dietetic intervention. The aim of this study
L. R. Ranganath +11 more
semanticscholar +1 more source
Cells, 2022 Nitisinone (NTBC) was recently approved to treat alkaptonuria (AKU), but there is no information on its impact on oxidative stress and inflammation, which are observed in AKU.
D. Braconi +16 more
semanticscholar +1 more source
ChemistryOpen, Volume 14, Issue 6, June 2025.Polymerization of homogentisic acid in the presence of extracellular matrix (ECM) components (an ex vivo turkey tendon model) yields simplified versions of biologically generated melanins in the ECM, facilitating studies of melanin–ECM interactions. A variety of techniques (X‐ray diffraction, microscopy, and spectroscopy) were employed to understand ...
Rebecca F. Shepherd +11 more
wiley +1 more source
Bilateral, anterior stromal ring opacity of the cornea [PDF]
, 1998 AIMS/BACKGROUND: To describe a bilateral, mid peripheral, ring-shaped corneal opacity, not resembling any known corneal degeneration, dystrophy, or other disorder, and occurring without ocular or systemic disease.
Binder, P.S. +4 more
core +2 more sources
Avulsive Achilles Tendon Rupture in a Patient With Alkaptonuria: A Case Report
CureusAlkaptonuria is a rare autosomal recessive disease caused by a mutation in the homogentisate 1,2-dioxygenase (HGO) gene, leading to the accumulation of homogentisic acid (HGA). HGA polymerizes to form a black pigment that accumulates in connective tissue
Luís Fabião +4 more
semanticscholar +1 more source
Molecular Genetics and Metabolism Reports, 2022 Background Although changes in the tyrosine pathway during nitisinone therapy are known, a complete characterization of the induced tyrosinaemia is lacking to improve disease management. Patients and methods Our research aims were addressed by 24-h blood
L. R. Ranganath +13 more
semanticscholar +1 more source
An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone
Journal of Anatomy, Volume 246, Issue 6, Page 1053-1074, June 2025.Examination of an alkaptonuria body highlights the susceptibility of all cartilage types and associated perichondrium to ochronotic pigmentation and the heterogeneity of ochronotic pigment distribution both within and between tissues. In joints, calcified cartilage pigments before non‐calcified cartilage.
Juliette H. Hughes +8 more
wiley +1 more source
Previously undiagnosed tyrosine metabolism disorder – alkaptonuria (a clinical case)
Клинический разбор в общей медицинеAlkaptonuria is a rare metabolic disorder in the catabolic pathway of phenylalanine and tyrosine, which is characterized by excessive release of homogentisic acid in the urine, ochronosis and arthropathy of the spine and large joints.
Nikita M. Nikitin +3 more
doaj +1 more source