Search Results - "PoyrazoğLu, Hatıce Gamze"
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Clinical spectrum of the pseudotumor cerebri in children: Etiological, clinical features, treatment and prognosis
Published in Brain & development (Tokyo. 1979) (01-06-2013)“…Abstract Objective: Pseudotumor cerebri (PTC) is a clinical condition characterized by signs and symptoms of increased intracranial pressure, such as headache…”
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2
Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-02-2017)“…Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The…”
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Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-05-2017)“…Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate…”
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A Rare Cause of Spasticity and Microcephaly: Argininemia
Published in Türk nöroloji dergisi (01-09-2020)“…Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation,…”
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Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation
Published in Pediatrics international (01-10-2016)“…Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous…”
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Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy
Published in Türk nöroloji dergisi (01-01-2019)“…Objective: To indicate the benefits of the screening of inherited metabolic disorders in patients with epilepsy, global developmental delay, and intellectual…”
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7
Transverse myelitis and acute motor sensory axonal neuropathy due to Legionella pneumophila: A case report
Published in Pediatrics international (01-12-2013)“…Guillain–Barré syndrome is a rapidly progressive symmetrical muscle weakness associated with acute inflammatory disease. Transverse myelitis (TM) is the…”
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8
Combination of two different homozygote mutations in Pompe disease
Published in Pediatrics international (01-03-2016)“…Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the…”
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9
Predictive value of laboratory parameters in childhood migraine
Published in Acta neurologica Belgica (01-08-2020)“…Migraine is a neurovascular disease characterized by inflammation of the cerebral and extra cerebral vessels and appears in the form of attacks. Although the…”
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10
Acute demyelinating encephalomyelitis and transverse myelitis in a child with COVID-19
Published in Turkish journal of pediatrics (01-01-2022)“…Corona virus disease 2019 (COVID-19) includes a wide range of diseases with varying pathophysiology in children and adults. Although the disease mainly affects…”
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The Prevalence of Migraine and Tension-Type Headache Among Schoolchildren in Kayseri, Turkey: An Evaluation of Sensitivity and Specificity Using Multivariate Analysis
Published in Journal of child neurology (01-06-2015)“…This study aimed to determine the prevalence as well as psychosocial and demographic features of migraine and tension-type headache among school children…”
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12
Different etiologies of acquired torticollis in childhood
Published in Child's nervous system (01-03-2014)“…Introduction Torticollis can be congenital or may be acquired in childhood. Acquired torticollis occurs because of another problem and usually presents in…”
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13
Three Patients With Lafora Disease: Different Clinical Presentations and a Novel Mutation
Published in Journal of child neurology (01-05-2015)“…Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration…”
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14
Dystonia of neck and oculogyric dystonic reaction due to sertraline use
Published in Anadolu psikiyatri dergisi (01-10-2015)Get full text
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Renal manifestations in children with neurofibromatosis type 1
Published in European journal of pediatrics (01-12-2021)“…Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous syndrome affecting various parts of the body, including the renovascular and urinary…”
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Assessment of Psychopathology and Quality of Life in Children and Adolescents With Migraine
Published in Journal of child neurology (01-06-2016)“…Aim: The aims of this study were to investigate comorbid psychiatric disorders and to identify anxiety and depression levels and quality of life in children…”
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17
L-2-hydroxyglutaric aciduria: Two cases
Published in European journal of paediatric neurology (01-06-2017)Get full text
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18
Childhood Stroke: Results of 130 Children From a Reference Center in Central Anatolia, Turkey
Published in Pediatric neurology (01-06-2014)“…Abstract Background Although stroke among children is rare, it can cause significant morbidity and mortality. We aim to share our experience of children with…”
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Postnatal outcome of isolated, nonprogressive, mild borderline fetal ventriculomegaly
Published in Child's nervous system (01-05-2013)“…Background This study aimed to evaluate postnatal outcome of fetuses affected by nonprogressive, isolated, mild (≥10 and ≤12 mm) borderline ventriculomegaly…”
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Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
Published in Journal of human genetics (01-12-2015)“…We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one…”
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