• Search
  • Advanced Search

Search

  • HOME
  • Search
Case Report
A Case of Glutaric Aciduria Type I with Macrocephaly
Woo Jong Shin, Yeo Ok Moon, Hye Ran Yoon, Eun Sil Dong, Young Min Ahn
Clin Exp Pediatr. 2003;46(3):295-301.   Published online March 15, 2003
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine...
A Case of Krabbe Disease with Infantile Spasm
Ja Kyoung Kim, Dal Hyun Kim, Bo Young Kang, Young Se Kwon, Young Jin Hong, Byong Kwan Son, Hye Ran Yoon
Clin Exp Pediatr. 2003;46(1):95-99.   Published online January 15, 2003
Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe...
A Case of Rhizomelic Chondrodysplasia Punctata Type I
Dal Hyun Kim, Young Se Kwon, Yong Hoon Jun, Young Jin Hong, Byoung Kwan Son, Hye Ran Yoon
Clin Exp Pediatr. 2002;45(12):1585-1590.   Published online December 15, 2002
Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with RCDP can be subdivided into three subgroups based on biochemical analysis and complementation studies. RCDP type I results from mutations in the PEX7 gene encoding the peroxisomal targeting signal type...
Original Article
Serum Lipid Levels and Fatty Acid Metabolism in the Rat with Adriamycin Induced Cardiomyopathy
Young Mi Hong, Hye Ran Yoon
Clin Exp Pediatr. 2000;43(11):1480-1487.   Published online November 15, 2000
Purpose : Adriamycin induced cardiomyopathy is irreversible and may procede to clinical congestive heart failure. Recently, it has been suggested that adriamycin may exert cardiomyopathy due to inhibition of transport across mitochondrial membranes mediated by the carnitine palmitoyltransferase system(CPT I). The effect of adriamycin on fatty acid metabolism according to cumulative dose was not clarified. The purpose of this study...