Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial

L. Ranganath, Eftychia Eirini Psarelli, Jean-Baptiste Arnoux et al. · The Lancet Diabetes & Endocrinology · 2020 · 123 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +3

Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre

L. Ranganath, Milad Khedr, Anna M. Milan et al. · Molecular Genetics and Metabolism · 2018 · 104 citations · Full text

Medicine, Internal Medicine, Molecular Pathology +1

Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

Daniel Beltrán-Valero de Bernabé, Begoña Granadino, Ilaria Chiarelli et al. · The American Journal of Human Genetics · 1998 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Natural history of alkaptonuria revisited: analyses based on scoring systems

L. Ranganath, Trevor F. Cox · Journal of Inherited Metabolic Disease · 2011 · 84 citations

Medicine, Pathobiology, Pathology +3

Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU

David B. Ascher, Ottavia Spiga, Martina Sekelská et al. · European Journal of Human Genetics · 2019 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14