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Yayıncı "J Child Neurol" için listeleme

Yayıncı "J Child Neurol" için listeleme

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  • Infantile sandhoff s disease multivoxel magnetic resonance spectroscopy findings 
    Alkan, Alpay; Kutlu, Ramazan; Yakıncı, Mehmet Cengiz; Sığırcı, Ahmet; Aslan, Mehmet; Saraç, Kaya (J Child Neurol, 2003)
    Sandhoff’s disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy ...
  • Subacute sclerosing panencephalitis with fulminating course follow up magnetic resonance spectroscopy MRS findings 
    Alkan, Alpay; Kutlu, Ramazan; Sığırcı, Ahmet; Aslan, Mehmet; Saraç, Kaya; Yakıncı, Mehmet Cengiz (J Child Neurol, 2004)
    The fulminating form of subacute sclerosing panencephalitis is an extremely rare condition. Imaging findings are usually not correlated with clinical staging. We describe a 4-year-old girl with severe neuronal loss, ...
  • Pyridoxine dependent seizures magnetic resonance spectroscopy findings 
    Alkan, Alpay; Kutlu, Ramazan; Sığırcı, Ahmet; Orkan, İsmet; Yakıncı, Mehmet Cengiz (J Child Neurol, 2004)
    Pyridoxine-dependent seizures are an extremely rare genetic disorder. Early diagnosis and treatment are important for the prevention of permanent brain damage. Elevated levels of glutamate and decreased levels of ...
  • Hallermann streiff syndrome associated with complete agenesis of the corpus callosum 
    Sığırcı, Ahmet; Alkan, Alpay; Bıçak, Uğur; Yakıncı, Mehmet Cengiz (J Child Neurol, 2005)
    Hallermann-Streiff syndrome is a rare clinical entity with unknown etiology characterized by a birdlike face, microphthalmia, a beaked nose, hypotrichosis, and proportional small stature. We present a 4-year-old boy in ...
  • Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case 
    Sığırcı, Ahmet; Alkan, Alpay; Kutlu, Ramazan; Gülcan, Hande (J Child Neurol, 2005)
    We screened 29 children with autism for mutation in the human secretin gene using single-strand conformation polymorphism. No mutation was detected in exon 2, 3, or 4. Polymerase chain reaction and DNA sequence of 5´ ...
  • Giant axonal neuropathy diffusion weighted imaging features of the brain 
    Alkan, Alpay; Sığırcı, Ahmet; Kutlu, Ramazan; Doğanay, Selim; Erdem, Gülnur; Yakıncı, Mehmet Cengiz (J Child Neurol, 2006)
    Giant axonal neuropathy is a rare autosomal recessive childhood disorder characterized by a peripheral neuropathy and features of central nervous system involvement. Magnetic resonance imaging (MRI) of an 11-year-old ...
  • Merosin negative congenital muscular dystrophy diffusion weighted imaging findings of brain 
    Alkan, Alpay; Sığırcı, Ahmet; Kutlu, Ramazan; Aslan, Mehmet; Doğanay, Selim; Yakıncı, Mehmet Cengiz (J Child Neurol, 2007)
    Merosin-negative congenital muscular dystrophy is a rare genetic disease of childhood involving the central and peripheral nervous system. There were high signal intensities throughout the centrum semiovale, periventricular, ...
  • Prevalance and outcome of congenital heart disease in patients with neural tube defect 
    Koçak, Gülendam; Önal, Selami Çağatay; Karakurt, Cemşit; Ateş, Özkan; Çaylı, Süleyman; Yoloğlu, Saim (J Child Neurol, 2008)
    A prospective clinical study was designed to establish the risk factors, the prevalence, and the progress of congenital heart defects in children with neural tube defects. Study included 90 children with a mean age of ...