Associated Papers
Combined alkaptonuria and osteoporosis contributing to chronic back pain.
Riegler A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
Abraham SSC et al.
The Indian Journal of Medical Research, 2024
Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria.
Abdelkhalek ZS et al.
Scientific Reports, 2023
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Zatkova A et al.
Metabolites, 2022
Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
Sen Gupta PS et al.
Journal of Biomolecular Structure & Dynamics, 2021
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
Danda S et al.
Clinical Rheumatology, 2020
Single Amino Acid Substitution in Homogentisate Dioxygenase Affects Melanin Production in Bacillus thuringiensis.
Yang W et al.
Frontiers in Microbiology, 2018
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M et al.
European Journal of Human Genetics : Ejhg, 2016
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.
Porfirio B et al.
Jimd Reports, 2016
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.
Usher JL et al.
Jimd Reports, 2015
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
Journal of Inherited Metabolic Disease, 2011
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria.
Grasko JM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ladjouze-Rezig A et al.
Joint Bone Spine, 2006
Natural history of alkaptonuria.
Phornphutkul C et al.
The New England Journal of Medicine, 2002
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM et al.
Human Molecular Genetics, 2000