Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

This publication has 21 references indexed in Scilit:

• Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
  The Lancet Diabetes & Endocrinology, 2020
• Alkaptonuria – Many questions answered, further challenges beckon
  Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2019
• Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU
  European Journal of Human Genetics, 2019
• Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre
  Molecular Genetics and Metabolism, 2018
• Natural history of alkaptonuria revisited: analyses based on scoring systems
  Journal of Inherited Metabolic Disease, 2011
• Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers
  Journal of Inherited Metabolic Disease, 2011
• Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
  Human Mutation, 2009
• Allelic heterogeneity of alkaptonuria in Central Europe
  European Journal of Human Genetics, 1999
• Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients
  The American Journal of Human Genetics, 1998
• Molecular defects in alkaptonuria
  Cytogenetic and Genome Research, 1997