- Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance
Division of Metabolism, Department of Pediatrics, Hacettepe University, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
JIMD Rep 13:33-6. 2014
..Mild proteinuria started at the fourth month of the delivery. Our case report showed the importance of follow-up of these patients in terms of placental pathologies during pregnancy and for other complications during lactation period. ..
- Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
Division of Pediatric Metabolism, Department of Pediatrics Faculty of Medicine, Hacettepe University, Ankara, Turkey
Turk J Pediatr 57:388-393. 2015
..Metabolic acidosis, mild hyperammonemia and lactic acidemia were accompanied with clinical findings in newborn period...
- Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Turk J Pediatr 57:213-8. 2015
..Although the BH4 loading test and molecular genetic analysis proved to be useful in detecting responsive patients, these analyses did not enable us to make predictions as to long-term responsiveness. ..
- Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 54:409-12. 2012
- Juvenile form of myasthenia gravis presenting as recurrent pulmonary infection with atelectasis
Department of Pediatric Neurology, University of Ankara Faculty of Medicine, Ankara, Turkey
Pediatr Int 49:1007-8. 2007
..Generalized weakness and dysphagia are less common presenting symptoms, while the clinical course is highly variable...
- Thrombophilic risk factors in epileptic children treated with valproic Acid
Department of Pediatric Neurology, Medicine Faculty, Ankara University, Ankara, Turkey
Pediatr Neurol 40:102-6. 2009
..Nonetheless, caution is advised when initiating valproic acid treatment in children who have had prior stroke or thrombotic events...
- EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders
Department of Developmental and Behavioral Pediatrics, Ankara University School of Medicine, Ankara, Turkey
World J Pediatr 5:196-200. 2009
..In this study, we aimed to evaluate the EEG and MRI findings and their relation with ID in pervasive developmental disorder...
- Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
Riza Koksal Ozgul
Hacettepe University, Faculty of Medicine, Department of Pediatrics, Metabolism Unit, Ankara, Turkey Hacettepe University, Institute of Child Health, Ankara, Turkey
Eur J Med Genet 57:596-601. 2014
..This study is the first comprehensive report from Turkey related to IVA genetics that provides information about the high number of disease-causing novel mutations...
- Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance
Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
Gene 521:293-5. 2013
..223insGTC, p.Val74_Ile75insVal; c.283insTGG, p.Glu94_Thr95insTrp; c.344_347delTTGC, p.Leu115LeufsX53; and c.1099insT, p.Ile367TyrfsX16. Clinical and biochemical findings were evaluated together with these molecular analyses...