Search Results - "Serdaroǧlu, Esra"
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1
Cardiac Manifestation in a Child With Atypical Hemolytic Uremic Syndrome
Published in Clinical pediatrics (01-10-2024)Get full text
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2
Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia
Published in Brain (London, England : 1878) (03-06-2024)“…Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were…”
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3
Systemic vasculopathy and hypertension in a child: Questions
Published in Pediatric nephrology (Berlin, West) (2022)Get full text
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Systemic vasculopathy and hypertension in a child: Answers
Published in Pediatric nephrology (Berlin, West) (2022)Get full text
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5
Severe Lactic Acidosis, Wernicke's Encephalopathy, and Wet Beriberi Due to Thiamine Deficiency in a Child With Leukemia
Published in Klinische Padiatrie (01-05-2024)Get more information
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Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study
Published in Epilepsy research (01-09-2024)“…This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment…”
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Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome
Published in Journal of pediatric hematology/oncology (01-01-2018)Get full text
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8
A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index
Published in Pediatric neurology (01-03-2024)“…There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal…”
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9
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Published in Brain & development (Tokyo. 1979) (01-06-2018)“…Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has…”
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A patient with neurofibromatosis type 1 and myotonic dystrophy type 1
Published in Neurology Asia (01-06-2022)“…The association of two neurological disorders in one patient can result in diagnostic delay despite the presence of well known clinical features. We present…”
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Screening traumatic life events in preschool aged children: cultural adaptation of Child and Adolescent Trauma Screen (CATS) Caregiver-report 3-6 years version
Published in Turkish journal of pediatrics (01-01-2021)“…Given the high prevalence of potentially traumatic events (PTEs), pediatric providers are in a novel position in early identification and referral of the…”
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Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020
Published in Seizure (London, England) (01-07-2022)“…•Valproic acid was determined to be more effective than levetiracetam monotherapy in the treatment of juvenile myoclonic epilepsy. However, adverse effects and…”
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Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect
Published in Journal of inherited metabolic disease (01-03-2019)“…MBOAT7 gene codes O‐acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in…”
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14
Autoimmune Epilepsy and/or Limbic Encephalitis Can Lead to Changes in Sleep Spindles
Published in Noro-Psikiyatri Arsivi (01-12-2018)“…Sleep disorders have been described in patients with autoimmune limbic encephalitis (LE). The changes in sleep structure were also reported. Recently sleep…”
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Dyskinetic crisis in GNAO1 -related disorders: clinical perspectives and management strategies
Published in Frontiers in neurology (06-06-2024)“…-related disorders ( -RD) encompass a diverse spectrum of neurodevelopmental and movement disorders arising from variants in the gene. Dyskinetic crises,…”
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The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study
Published in Epilepsy research (01-08-2022)“…OBJECTIVETo evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and…”
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Trigeminal Neuropathy as an Initial Manifestation in Pediatric-Onset Mixed Connective Tissue Disease
Published in Turkish archives of pediatrics (01-11-2023)Get full text
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18
Parental perception and child's nutritional status
Published in Turkish journal of pediatrics (01-01-2016)“…Childhood obesity is a health hazard increasing worldwide. Preschool period which is under supervision of parents is a critical period to detect overweight and…”
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A Turkish BCS1L mutation causes GRACILE-like disorder
Published in Turkish journal of pediatrics (2017)“…A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and…”
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Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey
Published in Acta neurologica Belgica (01-12-2017)“…Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and…”
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