Search Results - "Beşen,Şeyda"
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1
Çocuklarda psödotümör serebri: etyoloji, klinik bulgular, prognoz
Published in Cukurova Medical Journal (30-06-2019)“…Amaç: Psödotümör serebri tanısı alan hastaların klinik ve nörogörüntüleme bulguları, etiyolojileri, tedavi şekilleri ve süreleri, tedaviye yanıtları ve…”
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2
First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
Published in Brain & development (Tokyo. 1979) (01-08-2021)“…Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary…”
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3
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
Published in Neuropediatrics (01-08-2023)“…Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be…”
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4
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study
Published in Multiple sclerosis and related disorders (01-01-2024)“…•Recurrent optic neuritis cases in children should be thoroughly examined and closely monitored for multiple sclerosis (MS) and other potential…”
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5
Mucopolysaccharidosis type VI, 9 sibling pairs and 1 set of three siblings: single center experience from Turkey
Published in Molecular genetics and metabolism (01-02-2018)Get full text
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6
Mitochondrial membrane protein associated neurodegeneration in a Turkish patient
Published in European journal of paediatric neurology (01-06-2017)Get full text
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7
A case of congenital insensitivity to pain with anhidrosis presenting as a febrile convulsion
Published in European journal of paediatric neurology (01-06-2017)Get full text
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8
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency
Published in European journal of paediatric neurology (01-06-2017)Get full text
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9
Acute rhabdomyolysis associated with levetiracetam therapy in a child
Published in European journal of paediatric neurology (01-06-2017)Get full text
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10
Hereditary spastic paraplegia type 35 with a novel mutation in fatty acid 2-hydroxylase gene and literature review of the clinical features
Published in Annals of the Indian Academy of Neurology (01-10-2018)“…Complete blood count, serum biochemistry, lipid profile, thyroid function tests, and serum Vitamin E and B12 levels were all normal. [...]of the clinical exome…”
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11
Epilepsy And McArdle Disease In A Child
Published in Cukurova Medical Journal (01-01-2015)“…McArdle's disease, defined by the lack of functional glycogen phosphorylase in striated muscle, is inherited as an autosomal recessive trait. Patients…”
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12
Coexistence Of Two Rare Genetic Disorders: Familial Mediterranean Fever And Neurofibromatosis Type 1 In A Child
Published in Cukurova Medical Journal (01-01-2015)“…Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis,…”
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13
A Presentation of Lyme Disease: Pseudotumor Cerebri
Published in Turkish journal of pediatrics (01-09-2015)“…Lyme disease is caused by a tick-transmitted spirochete, B. burgdorferi. It can present with both central and peripheral nervous system manifestations,…”
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14
Pseudotumor cerebri in children: Etiology, clinical findings, prognosis
Published in Cukurova Medical Journal (01-02-2019)“…Purpose: Clinical and neuroimaging findings, aetiologies, treatment modalities and durations, response to treatment, and neurological sequelae of the patients…”
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15
Limbic encephalitis with antibodies to glutamic acid decarboxylase presenting with brainstem symptoms
Published in Annals of the Indian Academy of Neurology (01-04-2015)“…Limbic encephalitis (LE) is a neurological syndrome that may present in association with cancer, infection, or as an isolate clinical condition often…”
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16
Urinary and fecal incontinence during levetiracetam therapy
Published in Annals of the Indian Academy of Neurology (01-10-2015)“…Other mechanisms include inhibition of Zn2 + -associated negative gama-aminobutyric acid (GABA) modulation, high-voltage-gated N-type Ca2 + channel currents,…”
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17
Intravenous levetiracetam in critically ill children
Published in Annals of the Indian Academy of Neurology (01-01-2016)“…To report the effectiveness and safety of intravenous (IV) levetiracetam (LEV) in the treatment of critically ill children with acute repetitive seizures and…”
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18
Epilepsy and McArdle Disease in a Child
Published in Çukurova Üniversitesi tip fakültesi dergisi (01-01-2015)“…McArdle hastalığı, çizgili kasta glikojen fosforilaz enziminin eksikliği sonucu gelişen, otozomal resesif kalitim gösteren bir hastalık olarak…”
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19
Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in A Child
Published in Çukurova Üniversitesi tip fakültesi dergisi (01-03-2015)“…Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis,…”
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20
Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience
Published in Acta neurologica Belgica (01-02-2024)“…Background Homocysteine (Hcy) is an endogenous nonprotein sulfur-containing amino acid biosynthesized from methionine by the removal of its terminal methyl…”
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