Associated Papers
Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ et al.
Journal of Inherited Metabolic Disease, 2023
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Zatkova A et al.
Jimd Reports, 2012
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T et al.
Human Mutation, 2009
Select a paper to view details