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Case Report

Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo

Clin Exp Pediatr. 2002;45(10):1278-1282. Published online October 15, 2002

Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real...

Original Article

Natural History and Clinical Feature of Multicystic Dysplastic Kidney detected with Prenatal Ultrasonography

Young Lim Shin, Hye Sung Won, Jong Hyun Yoon, Young Seo Park

Clin Exp Pediatr. 2000;43(7):926-932. Published online July 15, 2000

Purpose : Multicystic dysplastic kidney(MCDK) is characterized by the presence of multiple cysts of varying sizes. It is associated with ureteral or pelviureteral atresia, and a non-functioning kidney. The purpose of this study was to examine the clinical feature and the natural history of MCDK. Methods : A study was performed in 36 children with prenatal diagnosis of MCDK from 1989 to 1999. All...

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