Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf
Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ et al.
Journal of Inherited Metabolic Disease, 2023
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Zatkova A et al.
Metabolites, 2022
36295892 (PubMed )
Supplement: metabolites-12-00990-s001.zip › metabolites-1964473-supplementary.pdf
Alkaptonuria in Russia.
Soltysova A et al.
European Journal of Human Genetics : Ejhg, 2022
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
29619247 (PubMed )
Supplement: 41525_2018_48_MOESM3_ESM.xlsx › gnomAD
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
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
Molecular defects in alkaptonuria.
Gehrig A et al.
Cytogenetics and Cell Genetics, 1997
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