Prof. Dr. ÇİĞDEM SEHER KASAPKARA

Yayın Ağı

Makaleler 100

1. Evaluation of food rejection and swallowing function in inherited metabolic diseases on diet therapy

Yesil B. O., Beyaz E. K., Koc N., AYDIN H. İ., KASAPKARA Ç. S.

EUROPEAN JOURNAL OF CLINICAL NUTRITION , cilt.80, sa.8, ss.763-771, 2026 (SCI-Expanded, Scopus)

2. The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases

Koc N., Konyaligil D. B., Ozen Yesil B., Kaldirim B., Tel Adiguzel K., Kireker Koylu O., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.21, sa.1, 2026 (SCI-Expanded, Scopus)

3. Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1

GÖKALP S., ÜNLÜ S., İNCİ A., KASAPKARA Ç. S., EMİNOĞLU F. T., OKUR İ., et al.

ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES , cilt.43, sa.5, 2026 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

4. Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency

Yilmaz B., Ceylan A. C., Gunduz M., ÜNAL UZUN Ö., Yavas A. K., Gurbuz B. B., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.183, sa.3, ss.1341-1351, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

5. Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration

Erdal A. E., Yurek B., Koylu O. K., CEYLAN A. C., Kurt A. N. C., Kasapkara Ç. S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.3, ss.271-275, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

6. A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency

Basan H., Azak E., ÇETİN İ. İ., Kilic E., Gurbuz B. B., Ozbey S. Z., et al.

MOLECULAR SYNDROMOLOGY , cilt.15, sa.2, ss.156-160, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

7. Heart Diseases in Patients with Organic Acidemia

Özbey S. Z., GÜNDÜZ M., ÇETİN İ. İ., KILIÇ E., CEYLAN A. C., ÜNAL UZUN Ö., et al.

Türkiye Çocuk Hastalıkları Dergisi , cilt.18, sa.3, ss.153-158, 2024 (TRDizin)

8. Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Engin Erdal A., Koylu O. K., CEYLAN A. C., KASAPKARA Ç. S., Tuncez E., Topcu M.

MOLECULAR SYNDROMOLOGY , cilt.15, sa.2, ss.130-135, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation

Yavas A. K., Engin Erdal A., Bilginer Gurbuz B., Unlusoy Aksu A., Kasapkara Ç. S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.36, sa.11, ss.1092-1099, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

10. **Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype**

CEYLAN A. C., Koylu O. K., Ozyurek H., Ozaydin E., Yon M. I., Kasapkara Ç. S.

ACTA NEUROLOGICA BELGICA , cilt.123, sa.5, ss.1757-1761, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

11. Two Different Diseases with Uric Acid Abnormality in the Same Patient: Be Careful About Routine Biochemical Tests!

Yurek B., Kilic E., Ozlu S. G., Civelek-Urey B., Kireker-Koylu O., Ozen-Yesil B., et al.

KLINISCHE PADIATRIE , cilt.235, sa.05, ss.308-309, 2023 (SCI-Expanded, Scopus)

12. Out-of-pocket health expenditures in patients living with inborn errors of metabolism

Gunduz M., Gudek Y. Y., KASAPKARA Ç. S.

ORPHANET JOURNAL OF RARE DISEASES , cilt.18, sa.1, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

13. Gaucher Hastalığı olan Olgularda SARS-CoV-2 enfeksiyonu

Civelek Urey B., KASAPKARA Ç. S., İNCİ A., GÜNDÜZ M., özkaya parlakay a., olgaç a., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM , cilt.5, 2023 (SCI-Expanded, Scopus)

14. Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report

Urey B. C., CEYLAN A. C., ÇAVDARLI B., Kurt A. N. C., Koylu O. K., Yurek B., et al.

MOLECULAR SYNDROMOLOGY , cilt.14, sa.2, ss.171-174, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

15. Multiplexed cell-based diagnostic devices for detection of renal biomarkers

Kose S., Ahan R. E., Koksaldi I. C., Olgac A., KASAPKARA Ç. S., Seker U. O. S.

BIOSENSORS & BIOELECTRONICS , cilt.223, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

16. Kliniğimizde Üre Döngüsü Bozukluğu Nedeniyle Takipli Olan Hastaların Klinik Özelliklerinin Değerlendirilmesi

KASAPKARA Ç. S., olgaç a., KILIÇ M., HAEBERLE J.

Türkiye Çocuk Hastalıkları Dergisi , cilt.17, sa.2, ss.101-105, 2023 (TRDizin)

17. CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C

Kasapkara Ç. S., Ceylan A. C., Yilmaz D., Koeylue O. K., Yuerek B., Uerey B. C., et al.

MOLECULAR SYNDROMOLOGY , cilt.14, sa.1, ss.30-34, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

18. A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus

Olgac A., Yildiz E., Yilmaz A., KASAPKARA Ç. S., Ceylaner S., Alioglu B.

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN , cilt.32, sa.12, ss.1629-1631, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

19. Can therapeutic plasma exchange be life-saving in life-threatening manganese intoxication?

Uyar E., Gurkas E., Aksu A. U., EMEKSİZ S., Kasapkara Ç. S., Gulleroglu N. B., et al.

TRANSFUSION AND APHERESIS SCIENCE , cilt.61, sa.4, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

20. Malonyl coenzyme A decarboxylase deficiency with a novel mutation

KASAPKARA Ç. S., Civelek Urey B., CEYLAN A. F., Uzun O. U., ÇETİN İ. İ.

CARDIOLOGY IN THE YOUNG , cilt.31, sa.9, ss.1535-1537, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

21. SLC35A2-CDG: novel variants with two ends of the spectrum

KASAPKARA Ç. S., CEYLAN A. C., Ozyurek H., Molla G. K., Urey B. C., Koylu O. K., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.9, ss.1185-1189, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

22. MAN1B1-CDG: novel patients and novel variant

KASAPKARA Ç. S., Olgac A., Kilic M., Keldermans L., Matthijs G., Jaeken J.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.9, ss.1207-1209, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

23. The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

Kasapkara Ç. S., Olgac A., OKUR İ., EZGÜ F. S., TÜMER L.

JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.3, ss.257-261, 2021 (ESCI, TRDizin)

24. Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience

Olgac A., Kasaplcara Ç. S., Derinkuyu B. E., Yuksel D., Cetinkaya S., Aksoy A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.9, ss.1169-1179, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

25. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Bayrak H., YILDIZ Y., Olgac A., Kasapkara Ç. S., Kucukcongar A., Zenciroglu A., et al.

METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1213-1222, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

26. Molecular and clinical findings of Turkish patients with hereditary fructose intolerance

Gunduz M., Unal-Uzun O., Koc N., CEYLANER S., Ozaydin E., KASAPKARA Ç. S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.8, ss.1017-1022, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

27. An Example to a Rare Multisystemic and Challenging Metabolic Disorder: Peroxisomal Disease

OLGAÇ KILIÇKAYA M. A. B., KASAPKARA Ç. S., KILIÇ M.

Türkiye Çocuk Hastalıkları Dergisi , cilt.15, sa.4, ss.312-318, 2021 (TRDizin)

28. Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl

Torun E. G., YILDIZ Y., Yazici M., Colak F. K., Kasapkara Ç. S.

KLINISCHE PADIATRIE , cilt.233, sa.04, ss.203-205, 2021 (SCI-Expanded, Scopus)

29. Oxidative Stress in Intoxication Type Inborn Errors of Metabolism using Thiol-Disulfide Ratio

Cam V., Olgac A., Kilic M., EREL Ö., NEŞELİOĞLU S., Kasapkara Ç. S.

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN , cilt.31, sa.6, ss.663-667, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

30. Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Yucel H., Sel C. G., Kasapkara Ç. S., Kucukali G. K., Savas-Erdeve S., Oztoprak U., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.13, sa.1, ss.114-118, 2021 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

31. Kliniğimizde takip edilen Fabry hastalarının moleküler ve klinik özelliklerinin geriye dönük olarak incelenmesi

KASAPKARA Ç. S., Olgaç A., YILDIZ İ., KASAPKARA H. A., KILIÇ M.

Türkiye Çocuk Hastalıkları Dergisi , cilt.15, sa.2, ss.117-122, 2021 (TRDizin)

32. The intersection of two global problems: Refugees and inborn errors of metabolism

OLGAÇ KILIÇKAYA M. A. B., Gülenç N., KASAPKARA Ç. S., KILIÇ M., ŞENEL S., TÜMER L.

Annals of Medical Research , cilt.28, sa.2, ss.296-302, 2021 (TRDizin)

33. The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders

OLGAÇ KILIÇKAYA M. A. B., KASAPKARA Ç. S., AÇIKEL S. B., YILDIZ Y., KARAKAYA MOLLA G., KILIÇ M.

JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.4, ss.370-376, 2021 (ESCI, Scopus, TRDizin)

34. A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency

Olgac A., Kasapkara Ç. S., Kilic M., Derinkuyu B. E., Azapagasi E., Kesici S., et al.

ARCHIVOS ARGENTINOS DE PEDIATRIA , cilt.118, sa.6, 2020 (SCI-Expanded, Scopus)

35. Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

Olgac A., İNCİ A., OKUR İ., BİBEROĞLU G., Oguz D., EZGÜ F. S., et al.

ANNALS OF NUTRITION AND METABOLISM , cilt.76, sa.4, ss.233-241, 2020 (SCI-Expanded, Scopus)

36. Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy

Olgac A., KASAPKARA Ç. S., Kilic M., Keskin E. Y., SANDAL G., Cram D. S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.10, ss.1349-1352, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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

YILDIZ Y., Arslan M., Celik G., Kasapkara Ç. S., CEYLANER S., DURSUN A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.182, sa.4, ss.705-712, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

38. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation

Olgac A., Oztoprak U., Kasapkara Ç. S., Kilic M., Yuksel D., Derinkuyu E. B., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.1, ss.165-170, 2020 (SCI-Expanded, Scopus)

39. Fasting-Induced Rhabdomyolysis in An Adolescent Girl

Yucel H., Polat E., Akcaboy M., ŞENEL S., KASAPKARA Ç. S.

KLINISCHE PADIATRIE , cilt.232, sa.1, ss.35-36, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

40. A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Kasapkara Ç. S., TÜMER L., Gregory A., Ezgu F. S., İNCİ A., Derinkuyu B. E., et al.

Acta neurologica Belgica , cilt.119, sa.4, ss.623-625, 2019 (SCI-Expanded, Scopus)

41. Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions

ÖZLÜ S. G., Kasapkara Ç. S., CEYLANER S., Nergiz M. E., Alan B., YILMAZ S., et al.

PEDIATRIC NEPHROLOGY , cilt.34, sa.10, ss.1727-1728, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

42. Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Kilic M., Kasapkara Ç. S., Yilmaz D. Y., ÖZGÜL R. K.

METABOLIC BRAIN DISEASE , cilt.34, sa.5, ss.1487-1491, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

43. Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers

ÖZLÜ S. G., Kasapkara Ç. S., CEYLANER S., Nergiz M. E., Alan B., YILMAZ S., et al.

PEDIATRIC NEPHROLOGY , cilt.34, sa.10, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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

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

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

45. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment

Kasapkara Ç. S., Yilmaz-Keskin E., Ozbay-Hosnut F., Akcaboy M., Polat E., Olgac A., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.61, sa.2, ss.282-285, 2019 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

46. Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes

Gunduz M., Unal O., Kucukcongar-Yavas A., Kasapkara Ç. S.

TURKISH JOURNAL OF PEDIATRICS , cilt.61, sa.2, ss.289-291, 2019 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

47. High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Koca S., TÜMER L., OKUR İ., ERTEN Y., Bakkaloglu S. A., BİBEROĞLU G., et al.

Gene , cilt.687, ss.280-288, 2019 (SCI-Expanded, Scopus)

48. Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center

Sel C. G., Kilic M., Yuksel D., Aksoy A., Kasapkara Ç. S., CEYLANER S., et al.

BRAIN & DEVELOPMENT , cilt.40, sa.10, ss.865-875, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

49. Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia

Yucel H., Kasapkara Ç. S., Akcaboy M., Aksoy E., Sahin G. E., Derinkuyu B. E., et al.

METABOLIC BRAIN DISEASE , cilt.33, sa.5, ss.1775-1778, 2018 (SCI-Expanded, Scopus)

50. **First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey**

Kesici S., Keskin E. Y., Chiang S. C. C., KASAPKARA Ç. S., Sekine T., Akcaboy M., et al.

TURKISH JOURNAL OF HEMATOLOGY , cilt.35, sa.3, ss.200-202, 2018 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

51. A Case of Glycogen Storage Disorder With a Novel Mutation

OLGAÇ M. A. B., KALAYCIK ŞENGÜL Ö., BAHSİ T., KILIÇ M., KASAPKARA Ç. S.

Turkish Journal of Molecular Biology and Biotechnology , cilt.3, ss.10-13, 2018 (Hakemli Dergi)

52. Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child

DEDEOĞLU Ö., KASAPKARA Ç. S., KARLI OĞUZ H. K., ALTINEL AÇOĞLU E., AKSOY A.

JOURNAL OF PEDIATRIC RESEARCH , cilt.5, ss.63-65, 2018 (TRDizin)

53. Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

Kasapkara Ç. S., Akcaboy M., Eroglu F. K., Derinkuyu B. E.

ARCHIVES OF RHEUMATOLOGY , cilt.33, sa.1, ss.93-98, 2018 (SCI-Expanded, Scopus, TRDizin)

54. A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Kasapkara Ç. S., TÜMER L., Zanetti N., Ezgu F. S., Lamantea E., Zeviani M.

Turkish journal of haematology : official journal of Turkish Society of Haematology , cilt.34, sa.4, ss.376-377, 2017 (SCI-Expanded, Scopus, TRDizin)

55. PMM2-CDG and sensorineural hearing loss

Kasapkara Ç. S., Baris Z., Kilic M., Yuksel D., Keldermans L., Matthijs G., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.40, sa.5, ss.629-630, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

56. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency

KASAPKARA Ç. S., AYCAN Z., Acoglu E., ŞENEL S., Oguz M. M., CEYLANER S.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.30, sa.4, ss.459-462, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

57. Agenesis of retinal vessels in a newborn with central nervous system developmental abnormality

Ozer P. A., Kabatas E. U., KURTUL B. E., Kasapkara Ç. S.

INTERNATIONAL OPHTHALMOLOGY , cilt.37, sa.1, ss.259-261, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

58. A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency

ADIŞEN E., Erduran F. B., EZGÜ F. S., Kasapkara Ç. S., Besio R., Forlino A., et al.

INTERNATIONAL JOURNAL OF LOWER EXTREMITY WOUNDS , cilt.15, sa.1, ss.86-91, 2016 (SCI-Expanded, Scopus)

59. Key features and clinical variability of COG6-CDG

Rymen D., Winter J., Van Hasselt P. M., Jaeken J., Kasapkara Ç. S., GÖKÇAY G. F., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.116, sa.3, ss.163-170, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

60. Secondary Hemophagocytosis in Propionic Acidemia

Kasapkara Ç. S., Kangin M., Ozmen B. O., Ozbek M. N., Demir R., Karatas M., et al.

IRANIAN JOURNAL OF PEDIATRICS , cilt.25, sa.3, 2015 (SCI-Expanded, Scopus)

61. **Mutations in BTD gene causing biotinidase deficiency: a regional report**

KASAPKARA Ç. S., Akar M., Ozbek M. N., Tuzun H., Aldudak B., Baran R. T., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.28, sa.3-4, ss.421-424, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

62. Lack of prolidase causes a bone phenotype both in human and in mouse

Besio R., Maruelli S., Gioia R., Villa I., Grabowski P., Gallagher O., et al.

BONE , cilt.72, ss.53-64, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

63. A CASE WITH RARE TYPE OF CONGENITAL DISORDER OF GLYCOSYLATION: PGM1-CDG

Kucukcongar A., Tumer L., EZGÜ F. S., Kasapkara Ç. S., Jaeken J., Matthijs G., et al.

GENETIC COUNSELING , cilt.26, sa.1, ss.87-90, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

64. MUTATIONAL ANALYSIS OF THE GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (GALT) GENE IN SOUTHEAST PART OF TURKEY: A REGIONAL REPORT

Akar M., Celik M., KASAPKARA Ç. S., Ozbek M. N., Aldudak B., Tuzun H.

GENETIC COUNSELING , cilt.26, sa.1, ss.91-94, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

65. Transient nephrogenic diabetes insipidus caused by fetal exposure to haloperidol

Akar M., Kasapkara Ç. S., Ozbek M. N., Tuzun H., Aldudak B., Kanar B.

RENAL FAILURE , cilt.36, sa.6, ss.951-952, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

66. BCS1L gene mutation causing GRACILE syndrome: case report

Kasapkara Ç. S., TÜMER L., EZGÜ F. S., Kucukcongar A., Hasanoglu A.

RENAL FAILURE , cilt.36, sa.6, ss.953-954, 2014 (SCI-Expanded, Scopus)

67. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Piras R., Chiappe F., La Torraca I., Buers I., Usala G., Angius A., et al.

HUMAN MUTATION , cilt.35, sa.4, ss.424-433, 2014 (SCI-Expanded, Scopus)

68. Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course

KASAPKARA Ç. S., Kasapkara S., Akar M., Nagehan Z., YÜRÜK YILDIRIM Z. N., Tuzun H., et al.

RENAL FAILURE , cilt.36, sa.3, ss.451-452, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

69. Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

Ezgu F. S., Ciftci B., Topcu B., Adiyaman G., Gokmenoglu H., Kucukcongar A., et al.

METABOLIC BRAIN DISEASE , cilt.29, sa.1, ss.211-213, 2014 (SCI-Expanded, Scopus)

70. Home sleep study characteristics in patients with mucopolysaccharidosis

Kasapkara Ç. S., TÜMER L., ASLAN A. T., Hasanoglu A., EZGÜ F. S., Kucukcongar A., et al.

SLEEP AND BREATHING , cilt.18, sa.1, ss.143-149, 2014 (SCI-Expanded, Scopus)

71. Variety of referral centers and diagnoses of congenital heart diseases that required intervention followed-up in neonatal intensive care unit: Regional Report

Akar M., Aldudak B., Kasapkara Ç. S., Tuzun H., Onan S. H., Kanar B., et al.

ANADOLU KARDIYOLOJI DERGISI-THE ANATOLIAN JOURNAL OF CARDIOLOGY , cilt.14, sa.1, ss.101-102, 2014 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

72. Dislipidemilerde Beslenme Özellikleri

TÜMER L., KASAPKARA Ç. S.

Türkiye Klinikleri Pediatrik Bilimler Dergisi , cilt.10, sa.3, ss.34-43, 2014 (Hakemli Dergi)

73. Continuous glucose monitoring in children with glycogen storage disease type I

KASAPKARA Ç. S., Demir G. C., Hasanoglu A., TÜMER L.

EUROPEAN JOURNAL OF CLINICAL NUTRITION , cilt.68, sa.1, ss.101-105, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

74. Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Gucuyener K., Kasapkara Ç. S., TÜMER L., Verbeek M. M.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY , cilt.17, sa.2, ss.234-236, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

75. Kalıtsal Metabolik Hastalıklarda Beslenme İlkeleri

KASAPKARA Ç. S., HASANOĞLU A.

Türkiye Klinikleri Pediatrik Bilimler Dergisi , cilt.10, sa.3, ss.95-104, 2014 (Hakemli Dergi)

76. Sekonder Hiperlipidemiler

HASANOĞLU A., KASAPKARA Ç. S.

Türkiye Klinikleri Pediatri Dergisi , cilt.23, sa.1, ss.22-28, 2014 (Hakemli Dergi)

77. DGUOK-Related Mitochondrial DNA Depletion Syndrome in a Child With an Early Diagnosis of Glycogen Storage Disease

Kasapkara Ç. S., TÜMER L., Kuecuekcongar A., Hasanoglu A., Seneca S., De Meirleir L.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION , cilt.57, sa.5, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

78. Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

TÜMER L., Kasapkara Ç. S., BİBEROĞLU G., Ezgu F. S., Hasanoglu A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.26, sa.11-12, ss.1149-1152, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

79. Sleep study characteristics in patients with mucopolysaccharidosis

ASLAN A. T., Kasapkara Ç. S., TÜMER L., Hasanoglu A., Ezgu F. S.

EUROPEAN RESPIRATORY JOURNAL , cilt.42, 2013 (SCI-Expanded, Scopus)

80. Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2

Tuemer L., Kasapkara Ç. S., Fong K., Serdaroglu A., McGrath J. A.

JOURNAL OF DERMATOLOGY , cilt.40, sa.8, ss.677-680, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

81. Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia

Kucukcongar A., Yenicesu I., TÜMER L., Kasapkara Ç. S., EZGÜ F. S., Pasaoglu O., et al.

TRANSFUSION AND APHERESIS SCIENCE , cilt.48, sa.3, ss.391-396, 2013 (SCI-Expanded, Scopus)

82. Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I

Kasapkara Ç. S., TÜMER L., BİBEROĞLU G., Kasapkara A., Hasanoglu A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.26, ss.427-431, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

83. Successful Desensitization With Agalsidase Alfa in 2 Brothers With Fabry Disease

Aydin O., Kasapkara Ç. S., Celik G. E.

JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY , cilt.23, sa.5, ss.367-368, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

84. Unusual cause of hyperammonemia in two cases with short term and long term valproate therapy successfully treated by single dose carglumic acid

KASAPKARA Ç. S., KANĞIN M., TAŞ F. F., TOPÇU Y., DEMİR R., ÖZBEK M. N.

JOURNAL OF PEDIATRIC NEUROSCIENCES , cilt.8, sa.3, ss.250, 2013 (Scopus)

85. Çocuklarda Hiperlipidemi Taraması

TÜMER L., KASAPKARA Ç. S.

Türkiye Klinikleri Pediatri Dergisi , cilt.22, sa.4, ss.171-177, 2013 (Hakemli Dergi)

86. AN EXTREMELY RARE CASE: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA

Kasapkara Ç. S., Kucukcongar A., BOYUNAGA Ö. L., Bedir T., Oncu F., Hasanoglu A., et al.

GENETIC COUNSELING , cilt.24, sa.1, ss.69-74, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

87. SRD5A3-CDG: A patient with a novel mutation

Kasapkara Ç. S., TÜMER L., EZGÜ F. S., Hasanoglu A., Race V., Matthijs G., et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.16, sa.5, ss.554-556, 2012 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

88. AN EXTREMELY RARE CASE: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA

Kasapkara Ç. S., Kucukcongar A., Boyunaga Ö. L., Bedir T., Oncu F., Hasanoglu A., et al.

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

89. Vitamin D Osteoporozis

HASANOĞLU A., KASAPKARA Ç. S.

Türkiye Klinikleri Pediatrik Bilimler Dergisi , cilt.8, sa.2, ss.52-57, 2012 (Hakemli Dergi)

90. Lizozomal Depo Hastalıklarının Romatolojik Bulguları

KASAPKARA Ç. S., EZGÜ F. S.

Lizozomal Depo Hastalıkları Dergisi , cilt.4, sa.1, ss.9-13, 2012 (Hakemli Dergi)

91. Alfa Mannosidoz

KASAPKARA Ç. S., TÜMER L., BİBEROĞLU G., ÖZBEK M. N., HASANOĞLU A.

Lizozomal Depo Hastalıkları Dergisi , cilt.4, sa.1, ss.32-34, 2012 (Hakemli Dergi)

92. Hypercalcemia in glycogen storage disease type I patients of Turkish origin

Kasapkara Ç. S., TÜMER L., OKUR İ., Eminoglu T., EZGÜ F. S., Hasanoglu A.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.1, ss.35-37, 2012 (SCI-Expanded, Scopus)

93. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Kasapkara Ç. S., EZGÜ F. S., OKUR İ., TÜMER L., BİBEROĞLU G., Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.170, sa.6, ss.799-801, 2011 (SCI-Expanded, Scopus)

94. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Hasanoglu A., Balwani M., Kasapkara Ç. S., EZGÜ F. S., OKUR İ., TÜMER L., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, sa.1, ss.225-231, 2011 (SCI-Expanded, Scopus)

95. An Interesting Case of Fabry Disease Presented with Unexplained Abdomen Pain

KÜÇÜKÇONGAR A., OKUR İ., EZGÜ F. S., KASAPKARA Ç. S., TÜMER L., DALGIÇ B., et al.

Lizozomal Depo Hastalıkları Dergisi , cilt.3, sa.1, ss.21-24, 2011 (Hakemli Dergi)

96. A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETS

Kasapkara Ç. S., Tumer L., OKUR İ., Hasanoglu A.

GENETIC COUNSELING , cilt.22, sa.2, ss.187-192, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

97. Mukopolisakkaridoz Tip VI Tanılı Olgularda Enzim Replasman Tedavi Sonuçlarının Değerlendirilmesi Gazi Üniversitesi Deneyimi

HASANOĞLU A., EZGÜ F. S., TÜMER L., KASAPKARA Ç. S., OKUR İ., KÜÇÜKÇONGAR A.

Lizozomal Depo Hastalıkları Dergisi , cilt.3, sa.1, ss.1-3, 2011 (Hakemli Dergi)

98. A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETS

Seher K. C., Leyla T., Ilyas O., Alev H.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus)

99. Guillain Barre Syndrome associated with hepatitis B vaccine and a review of the literature

ARHAN E., GÜCÜYENER K., AKTÜRK A., KASAPKARA Ç. S., DEMİR E., SERDAROĞLU A.

Gazi Medical Journal , cilt.20, sa.2, ss.83-85, 2009 (Scopus, TRDizin)

100. Successful management of anti-GBM disease in a 5(1)/(2)-year-old girl

Bakkaloglu S. A., Kasapkara Ç. S., Soylemezoglu O., Peru H., Fidan K., Hasanoglu E., et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION , cilt.21, sa.10, ss.2979-2981, 2006 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 11

Metrikler

Yayın

149

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

689

H-İndeks (WoS)

Atıf (Scopus)

750

H-İndeks (Scopus)

Atıf (Scholar)

103

H-İndeks (Scholar)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Diğer Toplam)

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

SDG 12: AMAÇ 12: SORUMLU ÜRETİM VE TÜKETİM

Yayınlar & Eserler