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Case Report
A Case of Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Presenting as Uric Acid Lithiasis
Ji Hae Kim, Mi Jung Kim, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2004;47(9):1020-1023.   Published online September 15, 2004
The deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT) results in hyperuricemia and subsequently manifests in diverse symptoms. Lesch-Nyhan syndrome is a disorder characterized by hyperuricemia, mental retardation, choreoathetosis, spasticity and self-mutilation, resulting from complete deficiency of the enzyme, whereas partial deficiency of the enzyme shows symptoms of milder forms more often without abnormal neurologic signs. A 7-year-old boy with normal growth and...
A Case of Congenital Nasal Pyriform Aperture Stenosis
Hyoung Sik Oh, Sang Hee Kim, Gil Hyun Kim, Hak Soo Lee, Il Hwan Jang, Ji Hae Kim
Clin Exp Pediatr. 2001;44(1):99-102.   Published online January 15, 2001
The cause of congenital nasal pyriform aperture stenosis is unclear. The development of the facial skeleton occurs between the fifth and the eighth week of gestation. It is at this stage that the stenosis occurs due to overgrowth of the ossification of the maxilla. Infants are obligate nasal breathers. Incomplete and milder forms of nasal airway obstruction may be present...
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