Prof. Dr. MERAL TOPÇU

Yayın Ağı

Makaleler 73

1. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

YILDIZ Y., Ardıçlı D., GÖÇMEN R., YALNIZOĞLU D., Topçu M., Coşkun T., et al.

European Journal of Paediatric Neurology , cilt.49, ss.66-72, 2024 (SCI-Expanded, Scopus)

2. Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

Cavusoglu D., Ozturk G., TÜRKDOĞAN D., HIZ A. S., YİŞ U., Komur M., et al.

Cerebellum , 2024 (SCI-Expanded, Scopus)

3. Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Erdal A. E., Köylü O. K., CEYLAN A. C., KASAPKARA Ç. S., Tunçez E., TOPÇU M.

Molecular Syndromology , cilt.15, sa.2, ss.130-135, 2023 (SCI-Expanded, Scopus)

4. Non-epileptic paroxysmal events at pediatric video-electroencephalography monitoring unit over a 15-year period

Yavuz P., GÜNBEY C., KARAHAN S., TOPÇU M., Turanli G., YALNIZOĞLU D.

Seizure , cilt.108, ss.89-95, 2023 (SCI-Expanded, Scopus)

5. Pediatric cardiology consultation at long-term video EEG monitoring

GÜNBEY C., AYKAN H. H., KARAGÖZ T., TURANLI G., TOPÇU M., YALNIZOĞLU D.

Annals of Medical Research , cilt.30, sa.1, ss.116-120, 2023 (TRDizin)

6. Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies

EROĞLU ERTUĞRUL N. G., Yousefi M., Pekguel F., Doran T., Guenbey C., TOPÇU M., et al.

JOURNAL OF NEUROIMMUNOLOGY , cilt.369, 2022 (SCI-Expanded, Scopus)

7. Lesional resective epilepsy surgery in childhood: Comparison of two decades and long-term seizure outcome from a single center

GÜNBEY C., BİLGİNER B., Oguz K. K., Soylemezoglu F., Ergun E. L., AKALAN N., et al.

EPILEPSY RESEARCH , cilt.181, 2022 (SCI-Expanded, Scopus)

8. Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series

Yildirim M., Babayigit O., ILGAZ F., YALNIZOĞLU D., TOPÇU M.

TURKISH JOURNAL OF NEUROLOGY , cilt.27, sa.3, ss.343-346, 2021 (ESCI, Scopus, TRDizin)

9. The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

Vural A., Simsir G., Tekgul S., Kocoglu C., Akcimen F., Kartal E., et al.

MOVEMENT DISORDERS , cilt.36, ss.1676-1688, 2021 (SCI-Expanded, Scopus)

10. Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay

ARDIÇLI D., Haliloglu G., GÖÇMEN R., GÜNBEY C., TOPÇU M.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.33, ss.94-98, 2021 (SCI-Expanded, Scopus)

11. Management of CLN1 Disease: International Clinical Consensus

Augustine E. F., Adams H. R., de los Reyes E., Drago K., Frazier M., Guelbert N., et al.

PEDIATRIC NEUROLOGY , cilt.120, ss.38-51, 2021 (SCI-Expanded, Scopus)

12. Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

Pekgul F., Eroglu-Ertugrul N. G., Bekircan-Kurt C. E., Erdem-Ozdamar S., Cetinkaya A., Tan E., et al.

MOLECULAR GENETICS AND METABOLISM REPORTS , cilt.25, 2020 (SCI-Expanded, Scopus)

13. Long-term effects of vagus nerve stimulation in refractory pediatric epilepsy: A single-center experience

YALNIZOĞLU D., ARDIÇLI D., BİLGİNER B., KONUŞKAN B., Oguz K. K., AKALAN N., et al.

EPILEPSY & BEHAVIOR , cilt.110, 2020 (SCI-Expanded, Scopus)

14. The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy

Ciftciler R., GÖKER H., BÜYÜKAŞIK Y., TOPÇU M., Gevher N., DEMİROĞLU H.

TRANSFUSION AND APHERESIS SCIENCE , cilt.59, sa.1, 2020 (SCI-Expanded, Scopus)

15. Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

Arslan E. A., Oncel İ. H., Ceylan A. C., TOPÇU M., Topaloglu H.

BRAIN & DEVELOPMENT , sa.1, ss.6-18, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

16. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience

ÜNAL C., ÖZKARA H. A., TANAÇAN A., FADILOĞLU E., LAY İ., TOPÇU M., et al.

PRENATAL DIAGNOSIS , cilt.39, sa.12, ss.1080-1085, 2019 (SCI-Expanded, Scopus)

17. Childhood Traumas, Attachment and Alexithymia in Adolescents with Psychogenic Nonepileptic Seizure Type of Conversion Disorder

Uzun O., AKDEMİR D., TOPÇU M., Ozsungur B.

TURK PSIKIYATRI DERGISI , cilt.30, sa.2, ss.109-117, 2019 (SSCI, Scopus, TRDizin)

18. Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Sprute R., ARDIÇLI D., Oguz K. K., Malenica-Mandel A., Daimagueler H., Koy A., et al.

HUMAN GENOME VARIATION , cilt.6, 2019 (ESCI, Scopus)

19. Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Ozer B., Yucel-Yilmaz D., Gurbuz B., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.42, sa.2, ss.381-388, 2019 (SCI-Expanded, Scopus)

20. Mystery Case: Pontine tegmental cap dysplasia in a neonate

BİLGİN N., PARLAK Ş., Simsek-Kiper P. O., Topcu M., Topaloglu H.

NEUROLOGY , cilt.91, sa.22, 2018 (SCI-Expanded, Scopus)

21. Neurologic Involvement in Primary Immunodeficiency Disorders

Yildirim M., Ayvaz D. N., Konuskan B., GÖÇMEN R., Tezcan I., TOPÇU M., et al.

JOURNAL OF CHILD NEUROLOGY , cilt.33, sa.5, ss.320-328, 2018 (SCI-Expanded, Scopus)

22. Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey

Arslan E. A., Gocman R., Oguz K. K., Konuskan G. D., SERDAROĞLU E., Topaloglu H., et al.

ACTA NEUROLOGICA BELGICA , cilt.117, sa.4, ss.857-865, 2017 (SCI-Expanded, Scopus)

23. Niemann-Pick disease type C in the newborn period: a single-center experience

GÜMÜŞ E., Haliloglu G., KARHAN A. N., DEMİR H., Gurakan F., TOPÇU M., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.176, sa.12, ss.1669-1676, 2017 (SCI-Expanded, Scopus)

24. 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

TOPÇU M., Aktas D., ÖZTOPRAK M., Mungan N. O., YÜCE A., ALİKAŞİFOĞLU M.

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

25. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Hendriksz C. J., Anheim M., Bauer P., Bonnot O., Chakrapani A., Corvol J., et al.

CURRENT MEDICAL RESEARCH AND OPINION , cilt.33, sa.5, ss.877-890, 2017 (SCI-Expanded, Scopus)

26. Management Strategies for CLN2 Disease

Williams R. E., Adams H. R., Blohm M., Cohen-Pfeffer J. L., de los Reyes E., Denecke J., et al.

PEDIATRIC NEUROLOGY , cilt.69, ss.102-112, 2017 (SCI-Expanded, Scopus)

27. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Tarlungeanu D. C., Deliu E., Dotter C. P., Kara M., Janiesch P. C., Scalise M., et al.

CELL , cilt.167, sa.6, ss.1481-1512, 2016 (SCI-Expanded, Scopus)

28. The seizure semiology consistent with frontal lobe symptomatogenic zone in children

Oztoprak Ü., Yalnızoğlu D., Oguz K. K., Ergün E., Soylemezoglu F., Bilginer B., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.58, sa.6, ss.583-591, 2016 (SCI-Expanded, Scopus, TRDizin)

29. Evaluation of central nervous system in patients with glycogen storage disease type 1a

Aydemir Y., Gurakan F., Temizel İ. N., DEMİR H., Oguz K. K., YALNIZOĞLU D., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.58, sa.1, ss.12-18, 2016 (SCI-Expanded, Scopus, TRDizin)

30. Conventional and advanced MR imaging in infantile Refsum disease

KILIÇ M., Karli-Oguz K., Haliloglu G., TOPÇU M., Wanders R. J., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.57, sa.3, ss.294-299, 2015 (SCI-Expanded, Scopus, TRDizin)

31. Vertigo in childhood: A retrospective series of 100 children

BATU AKAL E. D., Anlar B., TOPÇU M., Turanli G., AYSÜN S.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.19, sa.2, ss.226-232, 2015 (SCI-Expanded, Scopus)

32. Electrical status epilepticus during sleep: A study of 22 patients

Degerliyurt A., YALNIZOĞLU D., Bakar E. E., TOPÇU M., Turanli G.

BRAIN & DEVELOPMENT , cilt.37, sa.2, ss.250-264, 2015 (SCI-Expanded, Scopus)

33. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona M., Berkovic S. F., Dibbens L. M., Oliver K. L., Maljevic S., Bayly M. A., et al.

NATURE GENETICS , cilt.47, sa.1, ss.39-49, 2015 (SCI-Expanded, Scopus)

34. Semiological seizure classification of epileptic seizures in children admitted to video-EEG monitoring unit

Alan S., YALNIZOĞLU D., Turanli G., Karli-Oguz K., Lay-Ergun E., Soylemezoglu F., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.57, sa.4, ss.317-323, 2015 (SCI-Expanded, Scopus, TRDizin)

35. Somatic Mutations in Cerebral Cortical Malformations

Jamuar S. S., Lam A. N., Kircher M., D'Gama A. M., Wang J., Barry B. J., et al.

NEW ENGLAND JOURNAL OF MEDICINE , cilt.371, sa.8, ss.733-743, 2014 (SCI-Expanded, Scopus)

36. Etiological yield of SNP microarrays in idiopathic intellectual disability

Ütine G. E., Halıloglu G., Volkan-Salancı B., Cetinkaya A., Kıper P. O., Alanay Y., et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.18, sa.3, ss.327-337, 2014 (SCI-Expanded, Scopus)

37. Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

Bae B., Tietjen I., Atabay K. D., Evrony G. D., Johnson M. B., Asare E., et al.

SCIENCE , cilt.343, sa.6172, ss.764-768, 2014 (SCI-Expanded, Scopus)

38. Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

Tuz K., Bachmann-Gagescu R., O'Day D. R., Hua K., Isabella C. R., Phelps I. G., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.94, sa.1, ss.62-72, 2014 (SCI-Expanded, Scopus)

39. Health-related quality of life in adolescents with psychogenic nonepileptic seizures

AKDEMİR D., Uzun O., ÖZSUNGUR B., TOPÇU M.

EPILEPSY & BEHAVIOR , cilt.29, sa.3, ss.516-520, 2013 (SCI-Expanded, Scopus)

40. Usefulness of long-term video-EEG monitoring in children at a tertiary care center

Onay S., YALNIZOĞLU D., TOPÇU M., Turanli G.

TURKISH JOURNAL OF PEDIATRICS , cilt.55, sa.6, ss.591-597, 2013 (SCI-Expanded, Scopus)

41. Developmental abnormalities and mental retardation: diagnostic strategy

TOPÇU M., YALNIZOĞLU D.

PEDIATRIC NEUROLOGY, PT I , cilt.111, ss.211-217, 2013 (SCI-Expanded, Scopus)

42. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E., et al.

JOURNAL OF MEDICAL GENETICS , cilt.49, sa.6, ss.391-399, 2012 (SCI-Expanded, Scopus)

43. Childhood disabilities: reappraisal in the high-tech era

Topcu M.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , cilt.54, sa.6, ss.483, 2012 (SCI-Expanded, Scopus)

44. Four novel mutations in the beta-galactosidase gene identified in infantile type of GM1 gangliosidosis

CELTIKCI B., AYDIN H. I., Sivri S., Sonmez M., TOPÇU M., ÖZKARA H. A.

CLINICAL BIOCHEMISTRY , cilt.45, ss.571-574, 2012 (SCI-Expanded, Scopus)

45. Intractable Epilepsy in Childhood: Presurgical Evaluation and Treatment

YALNIZOĞLU D., HIRFANOĞLU T., SERDAROĞLU A., Turanli G., TOPÇU M.

EPILEPSI , cilt.18, ss.7-14, 2012 (ESCI, TRDizin)

46. Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

DEMİRBİLEK H., Alanay Y., ALİKAŞİFOĞLU A., TOPÇU M., Mornet E., Gonc N., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.4, sa.1, ss.34-38, 2012 (SCI-Expanded, Scopus)

47. When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center

Haliloglu G., Vezir E., Baydar L., Onol S., Sivri S., COŞKUN T., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.1, ss.52-58, 2012 (SCI-Expanded, Scopus)

48. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.

CELTIKCI B., TOPÇU M., ÖZKARA H. A.

Clinical biochemistry , cilt.44, ss.809-12, 2011 (SCI-Expanded, Scopus)

49. Novel mutations of the MLC1 gene in Turkish patients

YÜZBAŞIOĞLU A., TOPÇU M., KOCAEFE Y. Ç., ÖZGÜÇ M.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.54, sa.3, ss.281-283, 2011 (SCI-Expanded, Scopus)

50. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Yu T. W., Mochida G. H., Tischfield D. J., Sgaier S. K., Flores-Sarnat L., Sergi C. M., et al.

NATURE GENETICS , cilt.42, sa.11, ss.1015-1021, 2010 (SCI-Expanded, Scopus)

51. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilguvar K., Ozturk A. K., Louvi A., Kwan K. Y., Choi M., Tatli B., et al.

NATURE , cilt.467, sa.7312, ss.207-211, 2010 (SCI-Expanded, Scopus)

52. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

Poduri A., Chitsazzadeh V., D'Arrigo S., Fedrizzi E., Pantaleoni C., Riva D., et al.

BRAIN & DEVELOPMENT , cilt.32, sa.7, ss.550-555, 2010 (SCI-Expanded, Scopus)

53. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Shen J., Gilmore E. C., Marshall C. A., Haddadin M., Reynolds J. J., Eyaid W., et al.

NATURE GENETICS , cilt.42, sa.3, ss.245-251, 2010 (SCI-Expanded, Scopus)

54. Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders

Senocak E. U., Oguz K. K., Haliloglu G., TOPÇU M., Cila A.

DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY , cilt.16, sa.1, ss.3-6, 2010 (SCI-Expanded, Scopus)

55. Recommendations on the diagnosis and management of Niemann-Pick disease type C

Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.98, ss.152-165, 2009 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

56. Surgery for epilepsy in children with dysembryoplastic neuroepithelial tumor: clinical spectrum, seizure outcome, neuroradiology, and pathology

BİLGİNER B., YALNIZOĞLU D., Soylemezoglu F., TURANLI G., CİLA A., TOPÇU M., et al.

CHILDS NERVOUS SYSTEM , cilt.25, sa.4, ss.485-491, 2009 (SCI-Expanded, Scopus)

57. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., TOPÇU M., et al.

BRAIN , cilt.132, ss.810-819, 2009 (SCI-Expanded, Scopus)

58. Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

Oender E., Sinici I., Soenmez F. M., TOPÇU M., Oezkara H. A.

NEUROLOGICAL RESEARCH , cilt.31, sa.1, ss.60-66, 2009 (SCI-Expanded, Scopus)

59. Lamotrigine in children with refractory epilepsy

Celebi A., YALNIZOĞLU D., Turanli G., Topaloglu H., AYSÜN S., TOPÇU M.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.5, ss.426-431, 2008 (SCI-Expanded, Scopus)

60. Osteoid osteoma in a 16-year-old boy presenting with atrophy of the left thigh: diagnostic difficulties

AKGÜL S., ÜZÜMCÜGİL A., BOZKURT M. F., TOPÇU M.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.4, ss.373-376, 2008 (SCI-Expanded, Scopus)

61. Recurrent pseudotumoral hemicerebellitis: neuroimaging findings

Oguz K. K., Haliloglu G., ALEHAN D., TOPÇU M.

PEDIATRIC RADIOLOGY , cilt.38, sa.4, ss.462-466, 2008 (SCI-Expanded, Scopus)

62. Psychiatric evaluation of children with CSWS (continuous spikes and waves during slow sleep) and BRE (benign childhood epilepsy with centrotemporal spikes/rolandic epilepsy) compared to children with absence epilepsy and healthy controls

Taner Y., Erdogan-Bakar E., Turanli G., TOPÇU M.

TURKISH JOURNAL OF PEDIATRICS , cilt.49, sa.4, ss.397-403, 2007 (SCI-Expanded, Scopus)

63. Identification of 7th hexosaminidase A mutation of Tay-Sachs disease in the Turkish population

Sinici I., OENDER E., Topcu M., Oezkara H. A.

TURKISH JOURNAL OF PEDIATRICS , cilt.49, sa.3, ss.337-338, 2007 (SCI-Expanded, Scopus)

64. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

Siintola E., Topcu M., Aula N., Lohi H., Minassian B. A., Paterson A. D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.81, sa.1, ss.136-146, 2007 (SCI-Expanded, Scopus)

65. Neurologic outcome in patients with MRI pattern of damage typical for neonatal hypoglycemia

Yalnizoglu D., Halilo G., Turanli G., Cila A., Topcu M.

BRAIN & DEVELOPMENT , cilt.29, sa.5, ss.285-292, 2007 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

66. Impact of recent seizures on cerebral blood flow in patients with Sturge-Weber syndrome: Study of 2 cases

Oguz K. K., Senturk S., Ozturk A., Anlar B., Topcu M., Cila A.

JOURNAL OF CHILD NEUROLOGY , cilt.22, sa.5, ss.617-620, 2007 (SCI-Expanded, Scopus)

67. Malformations of cortical development and epilepsy: evaluation of 101 cases (Part II)

Guengoer S., Yalnizoglu D., Turanli G., Saatci I., Erdogan-Bakar E., Topcu M.

TURKISH JOURNAL OF PEDIATRICS , cilt.49, sa.2, ss.131-140, 2007 (SCI-Expanded, Scopus)

68. Outcome and long term follow-up after corpus callosotomy in childhood onset intractable epilepsy

Turanli G., Yalnizoglu D., Genc-Acikgoz D., Akalan N., Topcu M.

CHILDS NERVOUS SYSTEM , cilt.22, sa.10, ss.1322-1327, 2006 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

69. Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases

TOPÇU M., Saatci I., TOPÇUOĞLU M. A., Kose G., Kunak B.

Brain and Development , cilt.20, sa.3, ss.142-153, 1998 (SCI-Expanded, Scopus)

70. Sfingolipit depo hastalıklarının enzimatik tanısı

ÖZKARA H. A., TOPÇU M., BEKSAÇ M. S.

Klinik Bilimler ve Doktor , cilt.3, ss.431-439, 1997 (Hakemli Dergi)

71. Prenatal enzymatic diagnosis of Tay Sachs and Sandhoff diseases using chorionic villus and fetal blood sampling

ÖZKARA H. A., TOPÇU M., ÇAKAR A. N., BEKSAÇ M. S.

Gynecology, Obstetrics and Reproductive Medicine (GORM) , cilt.3, sa.1, ss.251-254, 1997 (Hakemli Dergi)

72. Cockayne syndrome: Review of 25 cases

ÖZDİRİM E., Topçu M., Özön A., Cila A.

Pediatric Neurology , cilt.15, sa.4, ss.312-316, 1996 (SCI-Expanded, Scopus)

73. Çocukluk çağı Metakromatik lökodistrofi tanısı alan olgularda Arilsülfataz A enzim aktivite değerleri klinik ve laboratuvar bulguları

EMRE S., TOPÇU M., SEYRANTEPE V., ÖZKARA H. A., RENDA Y.

Çocuk Sağlığı ve Hastalıkları Dergisi , cilt.38, sa.4, ss.575-582, 1995 (Hakemli Dergi)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 15

1. A case with psychomotor regression and leukoencephalopathy due to RNASEH2B gene defect

ÖZGÜL R. K., YÜCEL YILMAZ D., SERDAROĞLU E., YALNIZOĞLU D., TOPÇU M., DURSUN A.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

2. Clinical use of plasma oxysterols for rapid diagnosis of Niemann Pick type C

LAY İ., ARDIÇLI D., Afshin S., AKBIYIK F., Serdaroğlu E., HALİLOĞLU V. G., et al.

SSIEM 2016, 6 - 09 Eylül 2016, cilt.39, (Özet Bildiri)

3. Thalamic Lesions Associated with Epilepsy and ESES

YILDIRIM M., GÖÇMEN R., TOPÇU M., YALNIZOĞLU D.

14th International Child Neurology Congress, Amsterdam, Hollanda, 1 - 05 Mayıs 2016, (Özet Bildiri)

4. New biomarkers in the diagnosis of Niemann Pick Type C plasma levels of oxysterols

LAY İ., SAMADİ A., ARDIÇLI D., HALİLOĞLU V. G., YÜCE A., COŞKUN T., et al.

V. Congress of Lysosomal Disorders with International Participation, bODRUM, Türkiye, 14 - 17 Nisan 2016, (Tam Metin Bildiri)

5. Niemann-Pick disease type C in the newborn period: Reflections from 10 patients

YÜCE A., GÜMÜŞ E., Haliloglu G., KARHAN A. N., ARDIÇLI D., DEMİR H., et al.

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

6. Expert opinion on the management of CLN2 disease

Schulz A., Adams H. R., Blohm M., Cohen-Pfeffer J. L., de los Reyes E., Denecke J., et al.

12th Annual WORLD Symposium / Research Meeting of the Lysosomal-Disease-Network, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri)

7. Toxic leukoencephalopathy in synthetic cannabinoid abuse

TOPÇU M., SERDARAĞLU E., OKAR S. V., BEKTAŞ H., BEKLER B. M., GÖÇMEN R.

The European Paediatric Neurology Society (EPNS), 27 - 30 Mayıs 2015, (Özet Bildiri)

8. Clinical characteristics of MLD patients admitted to Hacettepe University in one year period

TOPÇU M., CEREN G., ARDIÇLI D., KARLI OĞUZ H. K.

Eur pediatric neurology society meeting 2015, 26 - 30 Mayıs 2015, (Özet Bildiri)

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Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

2126

H-İndeks (WoS)

Atıf (Scopus)

335

H-İndeks (Scopus)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler