İlyas Okur

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe et al. · New England Journal of Medicine · 2014 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

Francesca Bertola, Mirella Filocamo, Giorgio Casati et al. · Human Mutation · 2011 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Çiğdem Seher Kasapkara, Fatih Süheyl Ezgü, İlyas Okur et al. · European Journal of Pediatrics · 2011 · 44 citations

Pharmacy, Pediatrics, Pharmacology +9

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

İlyas Okur, Fatih Süheyl Ezgü, Gürsel Biberoğlu et al. · Gene · 2013 · 41 citations

Medicine, Clinical Sciences, Nephrology +14

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, Insa Buers et al. · The American Journal of Human Genetics · 2016 · 38 citations · Full text

Medicine, Genetics, Molecular Genetics +6