Metrikler
Yayın
23
Açık Erişim
1
BM Sürdürülebilir Kalkınma Amaçları
Makaleler
Tümü (3)
SCI-E, SSCI, AHCI (3)
SCI-E, SSCI, AHCI, ESCI (3)
Scopus (3)
2018
20181. Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI
Bulut E., Pektas E., SİVRİ H. S., BİLGİNER B., UMAROĞLU M. M., Ozgen B.
BRITISH JOURNAL OF RADIOLOGY
, cilt.91, sa.1085, 2018 (SCI-Expanded, Scopus)
2017
20172. Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment
YILDIZ Y., Pektas E., TOKATLI A., Haliloglu G.
NEUROPEDIATRICS
, cilt.48, sa.1, ss.49-52, 2017 (SCI-Expanded, Scopus)
2016
20163. A Nonvirilized form of Classic 3 beta-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria
ALİKAŞİFOĞLU A., Buyukyilmaz G., GÖNÇ E. N., ÖZÖN Z. A., KANDEMİR N., DÜNDAR M., et al.
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.281, 2016 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2016
20161. A27 Prenatal findings and autopsy examination in a newborn with multiple acyl CoA dehydrogenase deficiency Abstract Book A27 p 85
TOKATLI A., YILDIZ Y., DOKUZBOY SIRMA R., YİĞİT Ş., TALİM B., CEYLANER S., et al.
13th Middle East Metabolic Group Meeting, 6, Amman-Jordan, 28 - 30 Ekim 2016, ss.85, (Tam Metin Bildiri)
2016
20162. a rare lysosomal storage disease
COŞKUN T., canoruç d., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., et al.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
20163. presentation of classical galaktosemia with positive neborn screening
DURSUN A., bozat a., BİLGİNER GÜRBÜZ B., PEKTAŞ E., SİVRİ H. S., TOKATLI A., et al.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
20164. a rare form of mucopolysaccoridosis
BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., COŞKUN T., TOKATLI A.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
20165. Presentation of classic galactosemia with positive newborn screening for hyperphenylalaninemia
DURSUN A., YILDIZ Y., akın s., bozat a., YİĞİT Ş., BİLGİNER GÜRBÜZ B., et al.
13th Middle East Metabolic Group Meeting, 28 - 30 Ekim 2016, (Özet Bildiri)
2016
20166. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia
Evinç G., FOTO ÖZDEMİR D., ÖKTEM F., PEKTAŞ E., COŞKUN T., TOKATLI A., et al.
2016 annual multidisciplinary European Phenylketanuria Symposium, 7 - 08 Ekim 2016, (Özet Bildiri)
2016
20167. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia Rome Italy September 2016 2016 39 Suppl 1 S1 S34 P 164 DOI 10 1007 s10545 016 9970 9
Evinç G., FOTO ÖZDEMİR D., PEKTAŞ E., ÖKTEM F., SİVRİ H. S., COŞKUN T., et al.
SSIEM 2016 Annual Symposium, Roma, 4 - 10 Eylül 2016, (Özet Bildiri)
2016
20168. Ethylmalonic encephalopathy without ethylmalonic aciduria
YÜCEL YILMAZ D., ÖZGÜL R. K., PEKTAŞ E., serdaroğlu e., YALNIZOĞLU D., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)
2016
20169. Optic neuropathy a rare late complication in methylmalonicacidemia
BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., TOKATLI A., COŞKUN T.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201610. ethymelanonic encephaopathy without etilmelanoc acitüria
YÜCEL YILMAZ D., ÖZGÜL R. K., PEKTAŞ E., SERDARDĞLu e., YALNIZOĞLU D., DURSUN A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201611. Phenotypic variability and clinical biochemical histological andmolecular genetic characteristics of 17 patients with multipleacyl CoA dehydrogenase deficiency
TOKATLI A., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., COŞKUN T.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201612. Short term outcome of surgical correction of genu valgum in fourpatients with mucopolysaccharidosis type IV
SİVRİ H. S., aksoy m., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., TOKATLI A., et al.
SSIEM RDMA, 6 Eylül - 09 Haziran 2016, (Özet Bildiri)
2016
201613. Two cases with mucopolysaccharidosis type VII
Sivri S., Pektas E., YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T.
12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri)
2015
201514. Hyperlysinemia in a child and his mother
PEKTAŞ E., Burcu h., Özlem u., DURSUN A., SİVRİ H. S., TOKATLI A., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201515. A rare metabolic disease succinic semialdehyde dehydrogenase deficiency
TOKATLI A., PEKTAŞ E., yıldız Y., Özlem u., DURSUN A., SİVRİ H. S., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201516. Partial biotinidase deficiency with late onset severe cutaneous manifestations
SİVRİ H. S., yıldız Y., PEKTAŞ E., KK C., ALEHAN D., DURSUN A., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201517. Coexistence of phenylketonuria and primary adrenal insufficiency
COŞKUN T., PEKTAŞ E., GG b., DURSUN A., SİVRİ H. S., TOKATLI A.
SSIEM, 4 - 07 Eylül 2015
2015
201518. Two Cases with Mucopolysaccharidosis Type VII Sly s Syndrome
SİVRİ H. S., PEKTAŞ E., DURSUN A., TOKATLI A., COŞKUN T.
SSIEM, 4 - 07 Eylül 2015
2015
201519. Rhizomelic chondrodysplasia punctata type II a case diagnosed by whole exome sequencing
DURSUN A., PEKTAŞ E., YÜCEL YILMAZ D., ÖZGÜL R. K.
SSIEM, 4 - 07 Eylül 2015
2015
201520. A case of fucosidosis with a new mutation in FUCA1 gene
PEKTAŞ E., YÜCEL YILMAZ D., ÖZGÜL R. K., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015