- Case Report
- A Case of Glutaric Aciduria Type I with Macrocephaly
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Woo Jong Shin, Yeo Ok Moon, Hye Ran Yoon, Eun Sil Dong, Young Min Ahn
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Clin Exp Pediatr. 2003;46(3):295-301. Published online March 15, 2003
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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... |
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- Original Article
- Sudden Unexpected Death in Infancy
(Analysis of 34 Cases Including 13 Autopsies)
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Yeo Ok Moon, Hee Kyoung Choi, Jeoung-A Her, Woo Jong Shin, Myoung-A Kim, Seong Yong Lee, Seong Hee Jang, Eun Sil Dong, Chong Jae Kim, Young Min Ahn, Je Geun Chi
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Clin Exp Pediatr. 2002;45(9):1065-1074. Published online September 15, 2002
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Purpose : The purpose of this study is to analyze the epidemiologic characteristics of sudden unexpected death in infancy and to evaluate the importance of postmortem autopsy.
Methods : We reviewed, retrospectively, medical records of 34 infants admitted to Kangnam General Hospital from January 1987 to December 2001 because of sudden unexpected death. We investigated the cause of death through medical... |
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- Case Report
- A Case of Marshall-Smith Syndrome
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Yeo Ok Moon, Woo Jong Shin, Youn Jeong Shin, Eun Sil Dong, Young Min Ahn
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Clin Exp Pediatr. 2002;45(7):906-911. Published online July 15, 2002
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Marshall-Smith syndrome is characterized by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a one-month-old male infant with of this rare syndrome, with laryngeal anomalies who died at 6 months of age with pneumonia. This is the first case of Marshall-Smith syndrome in Korea. |
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