Yazar "Aydın, Kürşad" için listeleme
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A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
Çavuşoğlu, Dilek; Köse, Melis; Er, Esra; Elmas, Muhsin; Gençpınar, Pınar; Olgaç Dündar, Nihal; Aydın, Kürşad (Elsevier, 06.06.2022)Background Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is ... -
ITPA Related Developmental Encephalopathy: Key Role of Neuroimaging
Çavuşoğlu, Dilek; Ataseven Kulalı, Melike; Olgaç Dündar, Nihal; Özer Gökaslan, Çiğdem; Aydın, Kürşad (Medknow Publications, 2022)A 4-month-old girl presented with poor head control. She was born at term without complications. Parents were nonconsanguineous but from the same village. Her neurological examination revealed normal deep tendon reflexes ...
