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List of works by Ilyas Okur

A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.

scientific article published in January 2011

Audiologic evaluations of children with mucopolysaccharidosis

scientific article published on 25 September 2015

Crisponi syndrome: a new case with additional features and new mutation in CRLF1

scientific article published on 01 December 2008

Giant bronchogenic cyst mimicking tension pneumothorax.

scientific article

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R ⬇️

scientific article published on November 20, 2010

Hypercalcemia in glycogen storage disease type I patients of Turkish origin

scientific article published on January 1, 2012

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.

scientific article

Lipid apheresis applications in childhood: experience in the University Hospital of Gazi

scientific article published on 26 October 2008

Monocarboxylate transporter 1 deficiency and ketone utilization

scientific article published in November 2014

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.

scientific article

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

scientific article published on 05 January 2011

Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital

scientific article published on January 2015

Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children.

scientific article published in January 2013

Quality of life in children treated with restrictive diet for inherited metabolic disease.

scientific article published on 30 May 2013

Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray

scientific article published on 26 November 2007

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

scientific article published on 10 June 2013

Serum dipeptidyl peptidase-IV: a better screening test for early detection of mucopolysaccharidosis?

scientific article published on 28 February 2014

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects

scientific article published on 31 July 2016

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations

scientific article published on 28 January 2015

The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children

scientific article published on 01 September 2011

The role of viral agents in aetiopathogenesis of acute rheumatic fever.

scientific article published on 19 April 2010

Two novel deletions in hypotonia-cystinuria syndrome.

scientific article

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide

scientific article published on 30 April 2011

Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions

scientific article

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