- 3-year Follow-up of a Menkes Disease Patient
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You JH, Paek H, Jung K, Sun GK, Yoo HW, Kim KS, Kim YW, Kim EY
- KMID: 1528187
- J Korean Child Neurol Soc.
- 2007 May;15(1):94-101.
Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration,... -
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- A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13)
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Kim JK, Paek H, Yoo EJ, Jung K, Sun KK, Kim EY, Kim KS, Kim YW, Kim YS
- KMID: 1750726
- J Korean Soc Neonatol.
- 2007 Nov;14(2):247-252.
Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70%... -
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- Clinical Manifestation of Human Metapneumovirus Infection in Korean Children
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Paek H, Lee YJ, Cho HM, Eu EJ, Jung G, Kim EE, Kim YW, Kim KS, Seo JJ, Chung YS
- KMID: 2439923
- Korean J Pediatr Infect Dis.
- 2008 Dec;15(2):129-137.
- doi: 10.14776/kjpid.2008.15.2.129
PURPOSE: Human metapneumovirus (hMPV) was recently discovered in children with respiratory tract infection. The aim of this study was to determine the frequency and the clinical manifestation of hMPV infection... -
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