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Case Report
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
Hyo Jeong Kim, Se Jin Park, Kook In Park, Jin Sung Lee, Ho Sun Eun, Ji Hong Kim, Jae Il Shin
Clin Exp Pediatr. 2011;54(10):425-428.   Published online October 31, 2011

Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level...

Original Article
Survival analysis of spinal muscular atrophy type I
Hyun Bin Park, Soon Min Lee, Jin Sung Lee, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee
Clin Exp Pediatr. 2010;53(11):965-970.   Published online November 30, 2010
Purpose

The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported. In this study, we analyzed the natural courses and survival statistics of SMA type I patients and compared the clinical characteristics...

Clinical Lecture
Clinical Approaches to Genetic Disorders
Jin Sung Lee
Clin Exp Pediatr. 2000;43(11):1413-1417.   Published online November 15, 2000
Original Article
Role of Polymorphism in HLA DQ-α and -β Chain Loci in the Pathophysiology of Autoimmune Thyroid Disease in Children with and without Turner Syndrome
Kye Shik Shim, Kyu Chul Choeh, Sei Won Yang, Sa Jun Chung, Jin Sung Lee, Kyung Tae Lee, Sung Ho Goh, Yong Sung Kim
Clin Exp Pediatr. 1999;42(7):980-990.   Published online July 15, 1999
Purpose : About 10% of girls with Turner syndrome may have autoimmune thyroid disease(AIT), but the disease's pathophysiology has not yet been elucidated. Accordingly, this study was performed to observe whether the pathogenesis of AIT in children with Turner syndrome and without Turner syndrome correlate with special loci of DQ α and β chain in HLA. Methods : Blood samples were...
Clinical Differences by Karyotype in Patients with Turner Syndrome
Mi Jung Park, Jin Sung Lee, Kir Young Kim, Duk Hi Kim, Ho Seoung Kim
Clin Exp Pediatr. 1995;38(2):143-150.   Published online February 15, 1995
Purpose : The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. Methods : We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH...
Case Report
A Case of Transfusion-Associated Gragt-Verus-Host Disease in a Preterm Infant
Hye Jung Joo, Seung Mo Park, Ran Namgung, Kook In Park, Jin Sung Lee, Chul Lee, Dong Kwan Han, Kir-Young Kim, Kwang-Hoon Lee, Kwang-Gil Lee
Clin Exp Pediatr. 1993;36(11):1613-1620.   Published online November 15, 1993
Graft-versus-host disease is commonly observed after allogeneic bone marrow transplantation but rarely recognized transfusion or solid-organ transplantation. Transfusion-associated graft-versus-host disease can occur in immunosuppressed recipients and immunocompetent transplant recipients. The clinical manifestations of gastrointestinal or hepatic dysfunction, rash and pancytopenia should heighten the physician's index of suspicion for GVHD. Among premature infants, only four cases have been reported to develop...
Original Article
Clinical Study of the role of Exchange Transfusion for Treatment in Neonatal DIC.
Myung Shik Lee, Jin Sung Lee, Chul Lee, Dong Gwan Han
Clin Exp Pediatr. 1984;27(12):1151-1161.   Published online December 31, 1984
This study was made of 9 cases of neonatal septicemia complicated with DIC and sclerema, who were admitted to the pediatric department of YUMC from January 1981 to June 1983. The following results were obtained; 1) A higher incidence was observed in males(77.8%), low birth weight(66.7%) and1 pretnature(77.8%). 2) The mean onset of sepsis was noticsd on 4.4 days of life. The most common presenting symptoms...
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