• Search
  • Advanced Search

Search

  • HOME
  • Search
Review Article
Metabolic evaluation of children with global developmental delay
So-Hee Eun, Si Houn Hahn
Clin Exp Pediatr. 2015;58(4):117-122.   Published online April 22, 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of...

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
Meckel-Gruber syndrome
Jung Seo Park, Ji Yoen Lee, Sun Chan Bae, Moon Sung Park, Jung Seon Kim, Si Houn Hahn, Chang Ho Hong
Clin Exp Pediatr. 1998;41(6):856-860.   Published online June 15, 1998
Meckel-Gruber syndrome is a multiple malformation syndrome featuring occipital meningoencephalocele, multicystic dysplasia of kidney, cystic and fibrotic change of liver, polydactyly, and other characteristics inherited by the autosomal recessive trait. We exprienced a case of Meckel-Gruber syndrome in a newborn male diagnosed clinically and confirmed pathologically. Abnormalities of the fetus were found prenataly by ultrasonogram, and subsequently the baby was...
Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy
Si Houn Hahn, Ki Soo Pai, Ki Bum Lee, Kwang Hwa Park, Ok Hwa Kim, Chang Ho Hong, Baek Lin Eun, Seiji Yamaguchi
Clin Exp Pediatr. 1996;39(6):866-872.   Published online June 15, 1996
Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. Two forms of the disease, acute and chronic, are thought to be from the residual enzyme activity in the liver. The diagnosis of the tyrosinemia type 1 is suggested by...
Medical Lecture Course
Molecular Biology in Cancer Genetics
Si Houn Hahn
Clin Exp Pediatr. 1996;39(2):166-173.   Published online February 15, 1996
Original Article
A Case of Methylmalonic Acidemia.
Jong Hoon Park, Si Houn Hahn, Kee Hwan Yoo, Kwang Chul Lee, Chang Sung Sohn, Pyung Hwa Choe
Clin Exp Pediatr. 1989;32(7):984-989.   Published online July 31, 1989
Methylmalonic acidemia is an inborn error of metabolism, which is characterized by excretion of large amount of methylmalonate, and is transmitted as an autosomal recessive traits. The clinical symptoms begin in early life and are recurrent vomiting, lethargy, dehydration, failure to thrive. Laboratory findings show ketosis, metabolic acidosis, methymalonic aciduria with normal serum cobalamin level, hyperammonemia, pancytopenia. Two treatment regi- mens exist and should...
Congenital Esophageal Atresia Associated with Tracheal Bronchus and Imperforate Anus.
Si Houn Hahn, Keun Haeng Cho, Young Sook Hong, Soon Kyum Kim
Clin Exp Pediatr. 1989;32(4):550-555.   Published online April 30, 1989
Esophageal atresia occurs once in 3000-4500 live births. These anomalies are thought to arise from defective differentiation of the primitive foregut into trachea and esophagus. defective growth of entodermal cells leading to atresia and an incomplete fusion of the lateral walls of the foregut to form a tracheoesophageal fistula. A full-term male baby was admitted to Guro Hospital with chief complaints of respiratory difficulty, chocking,...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)