Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations
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چکیده
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Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations
We describe a 29 year old patient with propionic acidemia presentingwith a sudden onset of neuropsychiatric symptoms. The diagnosis of propionic acidemia wasmade by a fibroblast enzyme assay at the age of 5 weeks during an episode of coma and acidosis. He had several episodes of metabolic decompensation in early childhood leading to global developmental delays. The patient was lost to follow up...
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1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2014
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2014.08.007