Prof. Dr. H.NESLİHAN ÖNENLİ MUNGAN | AVESİS

Akademik Veri Yönetim Sistemi

Yayınlar & Eserler

Makaleler 49

1. Neurological involvement in 51 cystinosis patients: A single-center experience

BURGAÇ E., Yılmaz S. D., BULUT F. D., KOR D., Kara E., Köseci B., et al.

European Journal of Paediatric Neurology , cilt.57, ss.50-56, 2025 (SCI-Expanded, Scopus)

2. 5-Oxoprolinase Deficiency and Epilepsy: A Report of Four Cases with New Clinical Findings and Clinical Diversity Even in the Same Family

Koseci B., Kara E., Burgac E., Kaplan I., KOR D., BULUT F. D., et al.

Molecular Syndromology , 2025 (SCI-Expanded, Scopus)

3. A novel homozygous missense DNAJC3 variant in syndromic juvenile-onset diabetes

Mengen E., KOR D., BULUT F. D., KOTAN L. D., TURAN İ., Yüksel B., et al.

Journal of Pediatric Endocrinology and Metabolism , 2025 (SCI-Expanded)

4. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.

Muntau A. C., Longo N., Ezgu F., Schwartz I. V. D., Lah M., Bratkovic D., et al.

Lancet (London, England) , cilt.404, sa.10460, ss.1333-1345, 2024 (SCI-Expanded)

5. Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders

Kılavuz S., Bulut F. D., Kor D., Şeker Yılmaz B., Bişgin A., Demir F., et al.

Çocuk Dergisi , cilt.23, ss.31-40, 2023 (Hakemli Dergi)

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6. Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria.

Bulut F. D., Kor D., Kilavuz S., Cicek E., Koseci B., Kara E., et al.

Journal of paediatrics and child health , cilt.59, sa.11, ss.1238-1243, 2023 (SCI-Expanded)

7. Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

Kilavuz S., Kor D., BULUT F. D., Serbes M., Karagoz D., Altintas D. U., et al.

ARCHIVES DE PEDIATRIE , cilt.29, sa.6, ss.415-423, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

8. Evaluation of bone health in patients with mucopolysaccharidosis

KOR D., BULUT F. D., Kilavuz S., Yilmaz B. S., Koseci B., KARA E., et al.

JOURNAL OF BONE AND MINERAL METABOLISM , cilt.40, ss.498-507, 2022 (SCI-Expanded)

9. Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis

Bulut F. D., Bozbulut N. E., Ozalp O., DALGIÇ B., Mungan N. O., Ucar H. K., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, ss.681-685, 2022 (SCI-Expanded)

10. Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

Oncel I., Yousefi M., İNCİ A., ARSLAN GÜLTEN Z., Kisa P. T., Karaca M., et al.

MEDICAL HYPOTHESES , cilt.160, 2022 (SCI-Expanded)

11. Dysarthria, Ataxia, and Dystonia Associated with COX20 (FAM36A) Gene Mutation: A Case Report of a Turkish Child

Ozcanyuz D. G., İNCECİK F., Herguner O. M., Mungan N. O., Bozdogan S. T.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY , cilt.23, sa.3, ss.399-401, 2020 (SCI-Expanded)

12. Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population

İNCECİK F., Herguner O. M., Mungan N. O.

JOURNAL OF PEDIATRIC NEUROSCIENCES , cilt.15, sa.2, ss.86-89, 2020 (ESCI)

13. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients

Staufner C., Peters B., Wagner M., Alameer S., Baric I., Broue P., et al.

GENETICS IN MEDICINE , cilt.22, sa.3, ss.610-621, 2020 (SCI-Expanded)

14. Vitamin B12 levels in patients with mucopolysaccharidosis

KOR D., Bulut D., Yilmaz B. S., Kilavuz S., Mungan N. O.

CUKUROVA MEDICAL JOURNAL , cilt.45, sa.2, ss.401-407, 2020 (ESCI)

15. Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

Shapiro E., Lourenco C. M., Mungan N. O., Muschol N., O'Neill C., Vijayaraghavan S.

ORPHANET JOURNAL OF RARE DISEASES , cilt.14, 2019 (SCI-Expanded)

16. A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

Kilic M., Kasapkara C. S., Kilavuz S., Mungan N. O., BİBEROĞLU G.

METABOLIC BRAIN DISEASE , cilt.34, sa.2, ss.495-503, 2019 (SCI-Expanded)

17. CLINIC AND GENETIC PRESENTATION OF CHILDREN WITH CYSTINURIA

ÖZÇELİK Ç., Anarat A., Mungan N. O., BİŞGİN A., ATMIŞ B., MELEK E., et al.

PEDIATRIC NEPHROLOGY , cilt.33, sa.10, ss.1912, 2018 (SCI-Expanded)

18. A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

BULUT F. D., KOR D., Yilmaz B. S., YILMAZ M., ALTINTAŞ D. U., Ceylaner S., et al.

JOURNAL OF PEDIATRIC RESEARCH , cilt.5, sa.1, ss.54-56, 2018 (ESCI)

19. Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

Topcu M., Aktas D., Oztoprak M., Mungan N. O., YÜCE A., ALİKAŞİFOĞLU M.

MOLECULAR DIAGNOSIS & THERAPY , cilt.21, sa.6, ss.643-651, 2017 (SCI-Expanded)

20. Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose

Kor D., Yilmaz B. S., BULUT F. D., Ceylaner S., Mungan N. O.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.30, sa.7, ss.713-718, 2017 (SCI-Expanded)

21. Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation.

Mungan N., KÖR D., BÜYÜKKURT S., ATMıŞ A., GÜLEÇ Ü., Satar M.

Journal of pediatric endocrinology & metabolism : JPEM , cilt.29, sa.7, ss.863-6, 2016 (SCI-Expanded)

22. A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

UÇAR H., TUMGOR G., KOR D., KARDAŞ F., Mungan N.

Balkan medical journal , cilt.33, sa.3, ss.370-2, 2016 (SCI-Expanded)

23. Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.

GÜNDÜZ M., ÜNAL Ö., KAVURT S., TÜRK E., Mungan N.

Journal of pediatric endocrinology & metabolism : JPEM , cilt.29, ss.481-5, 2016 (SCI-Expanded)

24. Combination of two different homozygote mutations in Pompe disease.

ARSLAN A., POYRAZOĞLU H. H., KIRAZ A., ÖZCAN A. A., IŞıK H., ERGUL A., et al.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.58, ss.241-3, 2016 (SCI-Expanded)

25. Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.

HOROZ O., Mungan N., YILDIZDAS D., HERGÜNER Ö., CEYLANER S., KOR D., et al.

Journal of pediatric endocrinology & metabolism : JPEM , cilt.29, sa.2, ss.227-31, 2016 (SCI-Expanded)

26. Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

YILMAZ B., Mungan N., Di L., MAGNOLO L., ARTUSO L., BERNARDIS I., et al.

Clinica chimica acta; international journal of clinical chemistry , cilt.452, ss.185-90, 2016 (SCI-Expanded)

27. A Desensitization Method to Maintain Enzyme Replacement Therapy in Mucopolysaccharidosis Type VI.

KOR D., Şeker Y., BULUT F. D., Önenli M., Ufuk A.

Journal of investigational allergology & clinical immunology , cilt.26, ss.130-2, 2016 (SCI-Expanded)

28. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

Önenli-Mungan N., KOR D., KARABAY-BAYAZıT A., CENGIZ N., YAVUZ S., NOYAN A., et al.

The Turkish journal of pediatrics , cilt.58, sa.4, ss.362-370, 2016 (SCI-Expanded)

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29. Neurological assessment of 38 late-diagnosed children with classic phenylketonuria

HAYTOĞLU Z., Herguner O., SOYUPAK S., TOPALOĞLU A. K., YÜKSEL B., OZER G., et al.

CUKUROVA MEDICAL JOURNAL , cilt.41, sa.1, ss.21-27, 2016 (ESCI)

30. The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Luleyap U., PAZARCI P., CÖMERTPAY G., Onenli H. N., PAZARBAŞI A., ALPTEKİN D., et al.

CUKUROVA MEDICAL JOURNAL , cilt.41, sa.4, ss.702-708, 2016 (ESCI)

31. Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

YILMAZ B., KOR D., Mungan N., ERDEM S., CEYLANER S.

Journal of pediatric endocrinology & metabolism : JPEM , cilt.28, sa.9-10, ss.1179-81, 2015 (SCI-Expanded)

32. An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening

KOR D., Mungan N. O., Yilmaz B. S., Oktem M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.28, ss.669-671, 2015 (SCI-Expanded)

33. Brown-Vialetto-Van Laere syndrome: Two siblings with a new mutation and dramatic therapeutic effect of high dose riboflavin

ÖNENLİ MUNGAN H.

J PEDIATR ENDOCRINOL METAB , cilt.2015, ss.198-205, 2015 (Hakemli Dergi)

34. A 17-Year-Old Girl with Chronic Intermittent Abdominal Pain

Mungan N. O., Yilmaz B. S., Nazoglu S., Yildizdas D., Herguner O., Turgut M., et al.

PEDIATRIC ANNALS , cilt.44, sa.4, ss.139-141, 2015 (SCI-Expanded)

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35. Continuous Venovenous Hemodiafiltration in Three Newborn Patients with Hyperammonemia

YAPICIOĞLU YILDIZDAŞ H., Yildizdas D., GÜLDEREN ÖZLÜ F., Mert K., Mungan N. O.

CUKUROVA MEDICAL JOURNAL , cilt.40, ss.161-166, 2015 (ESCI)

36. Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Mungan N. O., Temiz F., Yilmaz B. S., Ozbek M. N., KARAKAŞ M., TOPALOĞLU A. K., et al.

CUKUROVA MEDICAL JOURNAL , cilt.40, ss.156-160, 2015 (ESCI)

37. Evaluation of Two Different Pamidronate Treatment Protocols in Children with Osteogenesis Imperfecta

ÖNENLİ MUNGAN H., gürbüz F., mengen e., özgür ö., topaloğlu a. k., yüksel b.

CUKUROVA MEDICAL JOURNAL , cilt.39, sa.3, ss.532-539, 2014 (Hakemli Dergi)

38. Hashimoto's Encephalopathy: Four Cases and Review of Literature.

YÜKSEL B., İNCECİK F., HERGÜNER M., ÖZGÜR HOROZ Ö., YILDIZDAŞ R. D., ALTUNBAŞAK Ş., et al.

Int J Neurosci , cilt.0, 2013 (Hakemli Dergi)

39. TYROSINEMIA TYPE 1 AND NEUROGENIC CRISIS: A CASE REPORT

BULUT F. D., KOR D., Onenli-Mungan N., Yükselmiş U., İNCECİK F., Yildizdas D.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

40. Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

GÜRBÜZ F., KOTAN L. D., Mengen E., ŞIKLAR Z., BERBEROĞLU M., Dokmetas S., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.4, sa.3, ss.121-126, 2012 (SCI-Expanded)

41. Serum IGF-1 and IGFBP-3 Levels in Healthy Children Between 0 and 6 Years of Age

YÜKSEL B., Ozbek M. N., Mungan N. O., Darendeliler F., Budan B., BİDECİ A., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.3, sa.2, ss.84-88, 2011 (SCI-Expanded)

42. Ambulatory Blood Pressure Monitoring and Serum Nitric Oxide Concentration in Type 1 Diabetic Children

Horoz O. O., YÜKSEL B., Bayazit A., ATTILA G., SERTDEMİR Y., Mungan N. O., et al.

ENDOCRINE JOURNAL , cilt.56, sa.3, ss.477-485, 2009 (SCI-Expanded)

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Sürdürülebilir Kalkınma

43. Serum IGF-1 and IGFBP-3 levels in healthy Turkish children between 0-6 years of age

YÜKSEL B., Ozbek M. N., Darendeliler F., BİDECİ A., Cetinkaya E., BERBEROĞLU M., et al.

HORMONE RESEARCH , cilt.72, ss.261, 2009 (SCI-Expanded)

44. Autism symptoms related to Tyrosinemia type III: a case report

YOLGA TAHİROĞLU A., ÖNENLİ MUNGAN H., FIRAT S., AVCI A.

TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM , cilt.12, sa.2, ss.55-56, 2008 (ESCI)

45. A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy of childhood

Ozbek M. N., Kotan D., Lanktree M., SERİN A., Mungan N. O., CANAN H., et al.

HORMONE RESEARCH , cilt.70, ss.187, 2008 (SCI-Expanded)

46. Bone calcium changes during diabetic ketoacidosis: A comparison with lactic acidosis due to volume depletion

Topaloglu A. K., Yildizdas D., Yilmaz H. L., Mungan N., Yuksel B., Ozer G.

BONE , cilt.37, sa.1, ss.122-127, 2005 (SCI-Expanded) Sürdürülebilir Kalkınma

Sürdürülebilir Kalkınma

47. Thyroid hormone levels and their relationship to survival in children with bacterial sepsis and septic shock

Yildizdas D., Onenli-Mungan N., Yapicloglu H., Topaloglu A. K., Sertdemir Y., Yuksel B.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.17, sa.10, ss.1435-1442, 2004 (SCI-Expanded)

48. Growth hormone and insulin like growth factor 1 levels and their relations to survival in children with bacterial sepsis and septic shock

ÖNENLİ MUNGAN H. N., YILDIZDAŞ R. D., YAPICIOĞLU YILDIZDAŞ H., TOPALOĞLU A. K., SERTDEMİR Y., YÜKSEL B.

J Paediatr Child Health , cilt.40, sa.4, ss.221-226, 2004 (SCI-Expanded)

49. Pediatrik kafa travmalarında idrar antidiürik hormon seviyeleri

YAMAN A., YÜKSEL B., AKSARAY N., ÖNENLİ MUNGAN H., YILDIZDAŞ R. D., Alhan A.

Ç.Ü.Sağlık Bil Derg , cilt.9,10, ss.45-54, 1996 (Hakemli Dergi)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 14

1. YENİDOĞANDA BİYOKİMYASAL HİPERTROİDİSM

YAPICIOĞLU YILDIZDAŞ H., ÖNENLİ MUNGAN H., AKÇALI M., GÜLDEREN ÖZLÜ F.

UNEKO 25, Antalya, Türkiye, ss.182, (Tam Metin Bildiri)

2. YENİDOĞANDA BİYOKİMYASAL HİPERTROİDİSM

YAPICIOĞLU YILDIZDAŞ H., ÖNENLİ MUNGAN H., AKÇALI M., GÜLDEREN ÖZLÜ F.

UNEKO 25, Antalya, Türkiye, ss.182, (Tam Metin Bildiri)

3. YENİDOĞANDA BİYOKİMYASAL HİPERTROİDİSM

YAPICIOĞLU YILDIZDAŞ H., ÖNENLİ MUNGAN H., AKÇALI M., GÜLDEREN ÖZLÜ F.

UNEKO 25, Antalya, Türkiye, ss.182, (Tam Metin Bildiri)

4. First case report of Gaucher disease and Graves' thyroiditis

Mungan N. O., KOR D., Kilavuz S., Bulut D., Yilmaz B. S.

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 10 - 14 Şubat 2020, cilt.129, (Özet Bildiri)

5. SON DÖNEM BÖBREK YETMEZLİĞİ VE SİSTİNOZİS: 41 YAŞINDA GÖZ MUAYENESİ İLE TANI ALABİLEN BİR OLSU SUNUMU

DEMİR İ., ŞEKER YILMAZ B., KILAVUZ S., KÖR D., DERYA BULUT F., ERDEM E., et al.

ULUSLARARASI KATILIMLI 6. LİZOZOMAL HASTALIKLAR KONGRESİ, Antalya, Türkiye, 11 - 15 Nisan 2018, ss.95, (Tam Metin Bildiri)

6. Chanarin-Dorfman syndrome: A case report

Mungan N. O., TUNCEZ E., YILMAZ B. S., LEBLEBİSATAN G., KUNT Z., BULUT D., et al.

12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri)

7. Ağır laktik asidoz gelişen MMA?lı bir olguda yüksek doz askorbik asit tedavisiyle salah

KÖR D., ÖNENLİ MUNGAN H., Özgür Ö., Yükselmiş U., Sarı Y., Ece Ü., et al.

. XII. Metabolik Hastalıklar ve Beslenme Kongresi., Eskişehir, Türkiye, 1 - 04 Mayıs 2013, (Tam Metin Bildiri)

8. Ağır laktik asidoz gelişen MMA?lı bir olguda yüksek doz askorbik asit tedavisiyle salah

KÖR D., ÖNENLİ MUNGAN H., Özgür Ö., Yükselmiş U., Sarı Y., Ece Ü., et al.

. XII. Metabolik Hastalıklar ve Beslenme Kongresi., Eskişehir, Türkiye, 1 - 04 Mayıs 2013, (Tam Metin Bildiri)

9. Brown-Vialetto-Van Laere ve Fazio Londe Sendromlu Bir Olgu Sunumu.

Gülen M., YILDIZDAŞ R. D., Sarı M., ÖZGÜR HOROZ Ö., Yükselmiş U., ÖNENLİ MUNGAN H.

Uluslararası Katılımlı X. Ulusal Çocuk Acil Tıp ve Yoğun Bakım Kongresi VI. Ulusal Çocuk Acil Tıp ve Yoğun Bakım Hemşireliği Kongresi, Antalya, Türkiye, 3 - 07 Nisan 2013, (Tam Metin Bildiri)

10. Brown-Vialetto-Van Laere ve Fazio Londe Sendromlu Bir Olgu Sunumu.

Gülen M., YILDIZDAŞ R. D., Sarı M., ÖZGÜR HOROZ Ö., Yükselmiş U., ÖNENLİ MUNGAN H.

Uluslararası Katılımlı X. Ulusal Çocuk Acil Tıp ve Yoğun Bakım Kongresi VI. Ulusal Çocuk Acil Tıp ve Yoğun Bakım Hemşireliği Kongresi, Antalya, Türkiye, 3 - 07 Nisan 2013, (Tam Metin Bildiri)

11. "A New Method For The Detection Of Ivs 10 11g-A Mutation In Phenylalanine Hydroxilase Gene With Arms Technique In Turkish Phenylketonuria Patients"

LÜLEYAP H. Ü., ONATOGLU D., PAZARBAŞI A., GUZEL A. I., OZER G., ÖNENLİ MUNGAN H., et al.

XX International Congress of Genetics,, Berlin, Almanya, 12 - 17 Temmuz 2008, cilt.625, ss.196, (Tam Metin Bildiri)

12. "A Modified Arms Tecnique For Detection Of P281l Mutations In Phenilalanine Hydroxylase Gene In Turkish Phenylketonuria Patients"

LÜLEYAP H. Ü., PAZARBAŞI A., ONATOGLU D., ALPTEKİN D., GUZEL A. I., ÖNENLİ MUNGAN H., et al.

XX International Congress of Genetics, Berlin, Almanya, 12 - 17 Temmuz 2008, cilt.439, ss.158, (Tam Metin Bildiri)

13. "A Modified Arms Tecnique For Detection Of P281l Mutations In Phenilalanine Hydroxylase Gene In Turkish Phenylketonuria Patients"

LÜLEYAP H. Ü., PAZARBAŞI A., ONATOGLU D., ALPTEKİN D., GUZEL A. I., ÖNENLİ MUNGAN H., et al.

XX International Congress of Genetics, Berlin, Almanya, 12 - 17 Temmuz 2008, cilt.439, ss.158, (Tam Metin Bildiri)

14. "A New Method For The Detection Of Ivs 10 11g-A Mutation In Phenylalanine Hydroxilase Gene With Arms Technique In Turkish Phenylketonuria Patients"

LÜLEYAP H. Ü., ONATOGLU D., PAZARBAŞI A., GUZEL A. I., OZER G., ÖNENLİ MUNGAN H., et al.

XX International Congress of Genetics,, Berlin, Almanya, 12 - 17 Temmuz 2008, cilt.625, ss.196, (Tam Metin Bildiri)

Metrikler

Yayın

78

Yayın (WoS)

48

Yayın (Scopus)

38

Atıf (WoS)

138

H-İndeks (WoS)

6

Atıf (Scopus)

179

H-İndeks (Scopus)

8

Proje

4

Tez Danışmanlığı

3

Açık Erişim

5

BM Sürdürülebilir Kalkınma Amaçları