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Toplam kayıt 13, listelenen: 1-10
Superoxide Dismutase and Catalase Genotypes in Pediatric Migraine Patients
(2015)
This study compared superoxide dismutase (SOD) and catalase (CAT) alleles in 97 consecutive children and adolescents with migraine to 96 healthy children and adolescents. Isolated genomic DNA was used as a template for ...
Serum Vitamin B12, Folic Acid, and Homocysteine Levels in Children with Febrile Seizure
(2015)
The aim of this study is to investigate the associations between febrile seizure and serum levels of vitamin B-12, folic acid, and homocysteine. One hundred and four children who presented with febrile seizure and 75 ...
Optic Neuritis as A Presenting Symptom of Mycoplasma Pneumoniae Infection
(2015)
A broad range of neurologic disorders has been described in children infected with Mycoplasma pneumoniae, of which encephalitis is among the most common. In contrast, the association between optic neuritis and Mycoplasma ...
West Syndrome Associated with A Novel Chromosomal Anomaly; Partial Trisomy 8P Together with Partial Monosomy 9P, Resulting from A Familial Unbalanced Reciprocal Translocation
(2015)
West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/ developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/ developmental West ...
22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation
(2015)
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically ...
Wernicke Encephalopathy after Gastrointestinal Surgery
(2015)
We herein describe a child operated for acute abdomen who developed Wernicke's encephalopathy (WE) secondary to prolonged total parenteral nutrition (TPN) that lacked vitamin B1 supplementation. The author concluded that ...
Chanarin Dorfman Syndrome: A Case Report
(2015)
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's ...
Tuberous sclerosis complex; a single center experience
(2015)
Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the ...
The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey
(2015)
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and ...