Search Results - "Degerliyurt, Aydan"
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Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene
Published in International journal of neuroscience (01-06-2024)“…PURPOSEA patient with primary CoQ10 deficiency associated with the c.901 C > T (p.R301W) (rs140246430) homozygous missense pathogenic variant in the COQ8A…”
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2
Pseudotumor cerebri/idiopathic intracranial hypertension in children: An experience of a tertiary care hospital
Published in Brain & development (Tokyo. 1979) (01-09-2014)“…Abstract Objective: Pseudotumor cerebri (PTC) is diagnosed at increasing rates probably due to the increase in obesity prevalence all over the world and…”
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3
Electrical status epilepticus during sleep: A study of 22 patients
Published in Brain & development (Tokyo. 1979) (01-02-2015)“…Abstract Objective: The aim of this study was to evaluate the clinical and imaging characteristics, treatment results, and prognosis of patients with…”
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4
Predictors of recurrence in Sydenham’s chorea: Clinical observation from a single center
Published in Brain & development (Tokyo. 1979) (01-10-2016)“…Abstract Objective Sydenham’s chorea is the most common cause of acquired chorea in children and is the major manifestation for acute rheumatic fever. Despite…”
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Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex in 11 Children: Presentation to Outcome
Published in Pediatric hematology and oncology (01-03-2013)“…Cardiac rhabdomyomas (CRs) are the most common heart tumors in children and closely associated with tuberous sclerosis complex (TSC). This study was performed…”
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6
Differences in iron deficiency anemia and mean platelet volume between children with simple and complex febrile seizures
Published in Seizure (London, England) (01-04-2012)“…Abstract Objective The relationship between iron deficiency anemia and febrile seizures (FSs) were examined in several studies before. The aim of our study is…”
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7
Assessment of tumors in children with tuberous sclerosis: a single centre's experience
Published in Turk Pediatri Arsivi (01-03-2017)“…As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is…”
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8
Assessment of bone density in children with cerebral palsy by areal bone mineral density measurement
Published in Turkish journal of pediatrics (01-11-2011)“…The aim of this cross-sectional study was to investigate the frequency of decreased areal bone mineral density (aBMD) among patients with cerebral palsy (CP),…”
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9
What is the outcome of rheumatic carditis in children with Sydenham's chorea?
Published in Turkish journal of pediatrics (01-03-2012)“…We evaluated the echocardiographic features of 69 children diagnosed with Sydenham's chorea at the first attack of acute rheumatic fever. By echocardiography,…”
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10
Refractive errors and ocular findings in children with intellectual disability: A controlled study
Published in Journal of AAPOS (01-10-2008)“…Purpose To evaluate the ocular findings and refractive errors in children with intellectual disability and in controls of average intellectual development of…”
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11
The correlation between headache and refractive errors
Published in Journal of AAPOS (01-06-2008)“…Purpose To compare the prevalence of refractive errors in patients with headache and a control population. Methods Three hundred ten patients with headache and…”
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12
Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation
Published in Turkish journal of pediatrics (2019)“…Değerliyurt A, Gezgen Kesen G, Ceylaner S. Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation. Turk J Pediatr 2019;…”
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13
Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis
Published in Clinical and applied thrombosis/hemostasis (01-04-2007)“…The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and…”
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Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation
Published in Neurocase (01-08-2021)“…Mucopolysaccharidosis (MPS) type IIIB patients present with marked neurodevelopmental and neuropsychiatric problems and not with typical MPS symptoms such as…”
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15
Posttraumatic infarction in the basal ganglia after a minor head injury in a child: case report
Published in Turkish neurosurgery (01-10-2008)“…We present a case of posttraumatic infarction in the territory supplied by the lateral lenticulostriate artery after a minor head injury in a child. A…”
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Behavioral problems of preschool children with new-onset epilepsy and one-year follow-up — A prospective study
Published in Epilepsy & behavior (01-03-2019)“…Childhood emotional/behavioral problems in children with epilepsy have been reported to be higher compared with those with typical development or with other…”
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Pediatric Syncope: Is Detailed Medical History the Key Point for Differential Diagnosis?
Published in Pediatric emergency care (01-05-2014)“…ABSTRACTSyncope is a transient loss of consciousness as a result of global cerebral hypoperfusion. It is generally benign but may be a sign of pathology. The…”
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Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Published in Turkish journal of pediatrics (2019)“…Değerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turk J Pediatr…”
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19
Panayiotopoulos syndrome: A case series from Turkey
Published in Epilepsy & behavior (01-07-2014)“…Abstract The aim of the study was to evaluate the demographic, clinical, and EEG characteristics of patients with Panayiotopoulos syndrome (PS) and the course…”
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Guillain-Barré syndrome in children: subtypes and outcome
Published in Child's nervous system (01-11-2018)“…Objective This study reviews the clinical features, subtypes, and outcomes of childhood Guillain-Barré syndrome (GBS). Methods Fifty-four children who attended…”
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