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Ilyas Okur
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Monocarboxylate transporter 1 deficiency and ketone utilization
PM van Hasselt, S Ferdinandusse, GR Monroe, JPN Ruiter, M Turkenburg, ...
New England Journal of Medicine 371 (20), 1900-1907, 2014
962014
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
F Bertola, M Filocamo, G Casati, M Mort, C Rosano, A Tylki‐Szymanska, ...
Human mutation 32 (6), E2189-E2210, 2011
962011
Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation
I Okur, F Ezgu, G Biberoglu, L Tumer, Y Erten, M Isitman, FT Eminoglu, ...
Gene 527 (1), 42-47, 2013
662013
N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia
CS Kasapkara, FS Ezgu, I Okur, L Tumer, G Biberoglu, A Hasanoglu
European journal of pediatrics 170, 799-801, 2011
462011
Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa
A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, ...
The American Journal of Human Genetics 99 (1), 236-245, 2016
422016
Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions
FS Ezgu, N Buyan, M Gündüz, L Tümer, I Okur, A Hasanoglu
European journal of pediatrics 163, 163-165, 2004
362004
Audiologic evaluations of children with mucopolysaccharidosis
Ç Gökdoğan, S Altinyay, O Gökdoğan, H Tutar, B Gündüz, I Okur, L Tümer, ...
Brazilian Journal of Otorhinolaryngology 82, 281-284, 2016
312016
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R
A Hasanoglu, M Balwani, ÇS Kasapkara, FS Ezgü, İ Okur, L Tümer, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2011
302011
Quality of life in children treated with restrictive diet for inherited metabolic disease
TF Eminoglu, SA Soysal, L Tumer, I Okur, A Hasanoglu
Pediatrics International 55 (4), 428-433, 2013
272013
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects
MT Walsh, E Di Leo, I Okur, P Tarugi, MM Hussain
Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2016
242016
Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children
I Okur, L Tumer, FS Ezgu, E Yesilkaya, A Aral, SO Oktar, A Bideci, ...
Journal of Pediatric Endocrinology and Metabolism 26 (7-8), 657-662, 2013
232013
3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family
F Tuba Eminoglu, AA Ozcelik, I Okur, L Tumer, G Biberoglu, E Demir, ...
Journal of child neurology 24 (4), 478-481, 2009
212009
The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children
A Hasanoğlu, İ Okur, AC Oren, G Biberoğlu, S Oktar, FT Eminoğlu, ...
Turk J Pediatr 53 (5), 522-7, 2011
182011
Crisponi syndrome: A new case with additional features and new mutation in CRLF1
I Okur, L Tumer, L Crisponi, FT Eminoglu, F Chiappe, P Cinaz, I Yenicesu, ...
American Journal of Medical Genetics Part A 146 (24), 3237-3239, 2008
182008
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets
CS Kasapkara, L Tumer, I Okur, A Hasanoglu
Genetic Counseling 22 (2), 187, 2011
172011
Autism: Screening of inborn errors of metabolism and unexpected results
A İnci, A Özaslan, I Okur, G Biberoğlu, E Güney, FS Ezgü, L Tümer, E İşeri
Autism Research 14 (5), 887-896, 2021
152021
Two novel deletions in hypotonia–cystinuria syndrome
L Régal, HI Aydin, AM Dieltjens, H Van Esch, I Francois, I Okur, C Zeybek, ...
Molecular genetics and metabolism 107 (3), 614-616, 2012
152012
Beneficial effects of modified Atkins diet in glycogen storage disease type IIIa
A Olgac, A İnci, İ Okur, G Biberoğlu, D Oğuz, FS Ezgü, ÇS Kasapkara, ...
Annals of Nutrition and Metabolism 76 (4), 233-241, 2020
142020
Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital.
M Gündüz, S Ünal, İ Okur, İ Ayrancı-Sucaklı, F Güzel, N Koç
Turkish Journal of Pediatrics 57 (1), 2015
142015
Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray
F Ezgu, A Hasanoglu, I Okur, G Biberoglu, L Tumer, T Eminoglu, H Dogan
Blood cells, molecules & diseases 40 (2), 246-247, 2008
142008
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