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Author     
Eun Ha Lee  (Lee EH) 3 Articles
Original Article
The Amino Acid Compositions of Formula for Children with Inherited Metabolic Disorder
Kyung Hwa Ryu, Jong Soo Kim, Eun Ha Lee, Il Sun Kwon, Si Houn Hahn
Clin Exp Pediatr. 2002;45(1):37-43.   Published online January 15, 2002
Purpose : This study aimed to determine the amino acids composition, safety and efficacy of formulas recently developed by Korean dairy companies for children with inherited metabolic disorder. Methods : The determination of amino acids concentration was performed on eight Korean formula samples. The samples were hydrolyzed with 6N HCL or performic acid and analyzed by amino acid analyzer. Results : No phenylalanine, methionine or...
Organic Acid Analysis on Urine Samples Obtaine3d from Dried Filter Paper in Newborns : Development of Screening Method for Organic Aciduria in Newborns
Eun Ha Lee, Si Houn Hahn
Clin Exp Pediatr. 2000;43(10):1311-1317.   Published online October 15, 2000
Purpose : Neonatal screening for inherited metabolic disease is aimed at identifying affected infants early, thus permitting medical intervention to prevent or minimize the effect of the disease. However, organic aciduria, most of which causes severe disease and mental retardation, is not yet screened routinely because of the difficulty of tests, sample collection, and expenditure of time and financial resources....
Case Report
A Case of FGFR2 Exon Ⅲc Mutation in Crouzon Syndrome
Seon Chan Bae, Eun Ha Lee, Moon Sung Park, Si Houn Hah, Chang Ho Hong
Clin Exp Pediatr. 1998;41(12):1717-1721.   Published online December 15, 1998
Crouzon syndrome, an autosomal dominant disorder, has characteristic features of craniosynostosis, hypertelorism, exophthalmos, maxillary hypoplasia and relative mandibular prognathism. Mutations of fibroblast growth factor receptor 2(FGFR2) gene are associated with craniosynostotic conditions, such as Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome, Apert syndrome and Beare-Stevenson cutis gyrata. We found one child with common morphological features of Crouzon syndrome. Interestingly, she...
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