Asst. Prof. YILMAZ YILDIZ

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

Kuseyri Hübschmann O., Horvath G., Cortès-Saladelafont E., Yıldız Y. , Mastrangelo M., Pons R., et al.

Nature communications, vol.12, no.1, pp.5529, 2021 (Journal Indexed in SCI Expanded)

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings

Yıldız Y. , Koşukcu C., Aygün D., Akçaboy M., Öztek Çelebi F. Z. , Taşcı Yıldız Y., et al.

CLINICAL GENETICS, vol.100, no.3, pp.308-317, 2021 (Journal Indexed in SCI)

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Çıkı K., Yıldız Y. , Yücel Yılmaz D., Pektaş E., Tokatlı A., Özgül R. K. , et al.

METABOLIC BRAIN DISEASE, vol.36, no.6, pp.1405-1410, 2021 (Journal Indexed in SCI)

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Keller M., Brennenstuhl H., Kuseyri Hübschmann O., Manti F., Julia Palacios N. A. , Friedman J., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, 2021 (Journal Indexed in SCI)

Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

AKAR H. T. , Çağan M. , YILDIZ Y. , SİVRİ H. S.

NEUROMUSCULAR DISORDERS, vol.31, no.6, pp.566-569, 2021 (Journal Indexed in SCI)

Safety and Efficacy of Liver-Directed Gene Therapy in Patients with Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M. , Rossi A., Fecarotta S., Romano R., et al.

MOLECULAR THERAPY, vol.29, no.4, pp.114, 2021 (Journal Indexed in SCI)

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Bayrak H., Yıldız Y. , Olgaç A., Kasapkara Ç. S. , Küçükcongar A., Zenciroğlu A., et al.

METABOLIC BRAIN DISEASE, 2021 (Journal Indexed in SCI)

Oral health status of children and young adults with maple syrup urine disease in Turkey.

Ballikaya E., Yildiz Y. , Koç N. , Tokatli A., Uzamis Tekcicek M., Sivri H. S.

BMC oral health, vol.21, pp.8, 2021 (Journal Indexed in SCI)

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Hübschmann O. K. , Mohr A., Friedman J., Manti F., Horvath G., Cortès-Saladelafont E., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, 2021 (Journal Indexed in SCI)

Invisible burden of COVID-19: enzyme replacement therapy disruptions

Kahraman A. B. , Yıldız Y. , Çıkı K., Akar H. T. , Erdal İ., Dursun A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.5, pp.539-545, 2021 (Journal Indexed in SCI)

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

Yıldız Y. , Göçmen R., Yaramış A., Coşkun T., Haliloğlu G.

PEDIATRICS, vol.146, no.5, 2020 (Journal Indexed in SCI)

Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl

Torun E., Yildiz Y. , Yazici M., Çolak F., Kasapkara C.

KLINISCHE PADIATRIE, 2020 (Journal Indexed in SCI)

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

Mısırlıgil M., Yıldız Y. , Akın O., Odabaşı G., Arslan M., Ünay B.

Journal of clinical research in pediatric endocrinology, 2020 (Journal Indexed in SCI Expanded)

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

YILDIZ Y. , Akcan Yildiz L., DURSUN A. , TOKATLI A. , COŞKUN T. , TEKŞAM Ö. , et al.

EUROPEAN JOURNAL OF PEDIATRICS, vol.179, no.7, pp.1107-1114, 2020 (Journal Indexed in SCI)

Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant

Yıldız Y. , Uysal Y., Çınar H., Özbay H., Kurt Ç., Kılıç M.

PANCREATOLOGY, vol.20, no.4, pp.644-646, 2020 (Journal Indexed in SCI)

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

Nakip O. S. , YILDIZ Y. , TOKATLI A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.6, pp.721-728, 2020 (Journal Indexed in SCI)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S. , SİVRİ H. S. , YILDIZ Y. , et al.

ORPHANET JOURNAL OF RARE DISEASES, vol.15, no.1, 2020 (Journal Indexed in SCI)

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Hızal M., Yeke B. , YILDIZ Y. , Öztürk A., Gürbüz B. B. , COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.3, pp.474-478, 2020 (Journal Indexed in SCI)

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

YILDIZ Y. , Arslan M., Celik G., Kasapkara C. S. , Ceylaner S., DURSUN A. , et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.182, no.4, pp.705-712, 2020 (Journal Indexed in SCI)

Comment on: "Multiple acyl-CoA dehydrogenase deficiency in elderly carriers"

YILDIZ Y. , TOKATLI A.

JOURNAL OF NEUROLOGY, vol.267, no.4, pp.1209-1210, 2020 (Journal Indexed in SCI)

Oral health status of children with phenylketonuria

BALLIKAYA E. , YILDIZ Y. , SİVRİ H. S. , TOKATLI A. , DURSUN A. , Olmez S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.3, pp.361-365, 2020 (Journal Indexed in SCI)

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

YILDIZ Y. , SİVRİ H. S.

TURKISH JOURNAL OF GASTROENTEROLOGY, vol.31, no.1, pp.3-16, 2020 (Journal Indexed in SCI)

When Pancreatitis Stinks A Rare Cause of Acute Recurrent Pancreatitis in a Child

YILDIZ Y. , Sahin G., Hosnut F. O.

PANCREAS, vol.49, no.1, 2020 (Journal Indexed in SCI)

Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency

YILDIZ Y. , Azapagasi E.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, vol.55, no.11, pp.1395-1396, 2019 (Journal Indexed in SCI)

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

YILDIZ Y. , TALİM B. , Haliloglu G., Topaloglu H., AKÇÖREN Z. , DURSUN A. , et al.

PEDIATRIC NEUROLOGY, vol.99, pp.69-75, 2019 (Journal Indexed in SCI)

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

YILDIZ Y. , SİVRİ H. S.

EUROPEAN JOURNAL OF PEDIATRICS, vol.178, no.7, pp.1005-1011, 2019 (Journal Indexed in SCI)

Cognitive and behavioral impairment in mild hyperphenylalaninemia

Evinç S., Pektaş E., Foto-Özdemir D. , Yıldız Y. , Karaboncuk Y., Bilginer-Gürbüz B., et al.

TURKISH JOURNAL OF PEDIATRICS, vol.60, no.6, pp.617-624, 2018 (Journal Indexed in SCI)

Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy

YILDIZ Y. , Olsen R. K. J. , SİVRİ H. S. , AKÇÖREN Z. , Nygaard H. H. , TOKATLI A.

NEUROMUSCULAR DISORDERS, vol.28, no.9, pp.787-790, 2018 (Journal Indexed in SCI)

Oral health status in patients with mucopolysaccharidoses

BALLIKAYA E. , Eymirli P. S. , YILDIZ Y. , AVCU N. , SİVRİ H. S. , Uzamis-Tekcicek M.

TURKISH JOURNAL OF PEDIATRICS, vol.60, no.4, pp.400-406, 2018 (Journal Indexed in SCI)

Hyperinsulinemic Hypoglycemia in Congenital Disorder of Glycosylation Type-1a (CDG-1a)

Vuralli D., YILDIZ Y. , SİVRİ H. S. , ALİKAŞİFOĞLU A.

HORMONE RESEARCH IN PAEDIATRICS, vol.90, pp.362-363, 2018 (Journal Indexed in SCI)

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment

YILDIZ Y. , Pektas E. , TOKATLI A. , Haliloglu G.

NEUROPEDIATRICS, vol.48, no.1, pp.49-52, 2017 (Journal Indexed in SCI)

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

YILDIZ Y. , DURSUN A. , TOKATLI A. , COŞKUN T. , Sivri S.

GYNECOLOGICAL ENDOCRINOLOGY, vol.33, no.1, pp.19-20, 2017 (Journal Indexed in SCI)

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

YILDIZ Y. , DURSUN A. , TOKATLI A. , COŞKUN T. , SİVRİ H. S.

TURKISH JOURNAL OF PEDIATRICS, vol.58, no.1, pp.94-96, 2016 (Journal Indexed in SCI)

Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation

OZDEMIR C. , Akpulat U. , SHARAFI P. , YILDIZ Y. , ONBAŞILAR İ. , Kocaefe C.

GENE, vol.553, no.2, pp.130-139, 2014 (Journal Indexed in SCI)

Localized acute generalized exanthematous pustulosis with amoxicillin and clavulanic acid

Ozkaya-Parlakay A., Azkur D., KARA A. , YILDIZ Y. , ORHAN D. , CENGİZ A. B. , et al.

TURKISH JOURNAL OF PEDIATRICS, vol.53, no.2, pp.229-232, 2011 (Journal Indexed in SCI)

Articles Published in Other Journals

Infant Acute Lymphoblastic Leukemia with Atypical Presentation

YAMAN BAJİN H. İ. , YILDIZ Y. , akın ş., AYTAÇ EYÜPOĞLU Ş. S. , ÜNAL CANGÜL Ş. , KUŞKONMAZ B. B. , et al.

Acta Medica, vol.50, no.4, pp.57-59, 2019 (Other Refereed National Journals)

Mukopolisakkaridozlarda ortopedik sorunlar

YILDIZ Y. , SİVRİ H. S.

TOTBİD Dergisi, vol.15, no.4, pp.303-310, 2016 (Other Refereed National Journals)

Kalıtsal Metabolik Hastalıklarda Dental Bulgular

YILDIZ Y. , SİVRİ H. S.

Türkiye Klinikleri Çocuk Diş Hekimliği - Özel Konular, vol.2, no.2, pp.28-33, 2016 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

Liver-Directed Gene Therapy Clinical Trial for Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M. , YILDIZ Y. , Fecarotta S., Zancan S., et al.

22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, Kiribati, 29 April - 02 May 2019, vol.27, pp.36-37

Three-year experience of pediatric physicians with adult inpatient consultations

YILDIZ Y. , PEKTAŞ E., BİLGİNER GÜRBÜZ B. , DURSUN A. , TOKATLI A. , COŞKUN T. , et al.

13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brazil, 5 September - 08 May 2017

Acute Metabolic Decompensations of Branched-Chain Organic Acidemias in the Pediatric Emergency Department: Clinical Presentation and Outcomes

SİVRİ H. S. , YILDIZ Y. , AKCAN L., PEKTAŞ E., BİLGİNER GÜRBÜZ B. , DURSUN A. , et al.

13th International Congress of Inborn Errors of Metabolism, 5 - 08 September 2017

The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients

BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GOKSOY E., YÜCEL YILMAZ D. , DURSUN A. , TOKATLI A. , et al.

International Congress of Inborn Errorsof Metabolism - ICIEM 2017, 5 - 08 September 2017, vol.5

Erişkinlerde kalıtsal metabolik hastalıklar: yatan hasta konsültasyonları ile üç yıllık deneyim

YILDIZ Y. , PEKTAŞ E., BİLGİNER GÜRBÜZ B. , DURSUN A. , TOKATLI A. , COŞKUN T. , et al.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

Etilmelonik ensefalopati: vaka sunumu

PEKTAŞ E., Yoldaş T. Ç. , BİLGİNER GÜRBÜZ B. , YILDIZ Y. , DURSUN A. , SİVRİ H. S. , et al.

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

Tedavi Almayan Hiperfenilalaninemili Çocuklarda Nörokognitif Fonksiyonların Değerlendirilmesi: İlk Sonuçlar

PEKTAŞ E., Evinc G., FOTO ÖZDEMİR D. , Karaboncuk Y., BİLGİNER GÜRBÜZ B. , YILDIZ Y. , et al.

14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi

GÖKMEN ÖZEL H. , YILMAZ Ö., YILDIZ Y. , GÖKSOY E., BİLGİNER GÜRBÜZ B. , DURSUN A. , et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.148

Fenilketonürili bireylerde Türkiye’ye Özgü Beslenme Rehberi’ne göre enerji ve bazı besin ögeleri alımının değerlendirilmesi

YILMAZ Ö., BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GÖKSOY E., DURSUN A. , SİVRİ H. S. , et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.151

Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısı

YILMAZ Ö., BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GÖKSOY E., DURSUN A. , SİVRİ H. S. , et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.150

Fenilketonürili bireylerin diyetle fenilalanin ve protein alımları: Önerilere uyum nasıldır?

YILMAZ Ö., BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GÖKSOY E., DURSUN A. , SİVRİ H. S. , et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.152

Fenilketonürili bireylerde diyet enerji ve protein alımlarının antropometrik ölçümlere etkisi var mıdır?

YILMAZ Ö., BİLGİNER GÜRBÜZ B. , YILDIZ Y. , GÖKSOY E., DURSUN A. , SİVRİ H. S. , et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.149

Late diagnosed phenylketonuria in an eight year old boy with dyslexia and attention deficit

DURSUN A. , TOKATLI A. , COŞKUN T. , SİVRİ H. S. , YILDIZ Y.

SSIEM ROMA, 6 - 09 September 2016

Klf5 acts as a differentiation switch from proliferation to fusion in myoblasts

Akpulat U. , YILDIZ Y. , Ozdemir-Saka C. , Akcay D., Kocaefe C.

41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Turkey, 3 - 08 September 2016, vol.283, pp.114

Two cases with mucopolysaccharidosis type VII

Sivri S., Pektas E. , YILDIZ Y. , DURSUN A. , TOKATLI A. , COŞKUN T.

12th Annual WORLD Symposium, California, United States Of America, 29 February - 04 March 2016, vol.117

Two adult siblings with progressive walking difficulty and visual disturbances

SİVRİ H. S. , YILDIZ Y. , Kiper P. O. S. , DURSUN A. , TOKATLI A. , COŞKUN T.

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114

Books & Book Chapters

Yıldız Y. , Sivri H. S.

in: , Kalbiye Yalaz, Editor, Hipokrat Kitabevi, Ankara, pp.343-351, 2021

Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Books & Book Chapters