- Review Article
- Metabolic evaluation of children with global developmental delay
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So-Hee Eun, Si Houn Hahn
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Clin Exp Pediatr. 2015;58(4):117-122. Published online April 22, 2015
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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... |
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- Original Article
- The Amino Acid Compositions of Formula for Children with Inherited Metabolic Disorder
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Kyung Hwa Ryu, Jong Soo Kim, Eun Ha Lee, Il Sun Kwon, Si Houn Hahn
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Clin Exp Pediatr. 2002;45(1):37-43. Published online January 15, 2002
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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... |
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- Case Report
- Meckel-Gruber syndrome
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Jung Seo Park, Ji Yoen Lee, Sun Chan Bae, Moon Sung Park, Jung Seon Kim, Si Houn Hahn, Chang Ho Hong
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Clin Exp Pediatr. 1998;41(6):856-860. Published online June 15, 1998
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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... |
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- Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy
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Si Houn Hahn, Ki Soo Pai, Ki Bum Lee, Kwang Hwa Park, Ok Hwa Kim, Chang Ho Hong, Baek Lin Eun, Seiji Yamaguchi
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Clin Exp Pediatr. 1996;39(6):866-872. Published online June 15, 1996
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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... |
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- Original Article
- A Case of Methylmalonic Acidemia.
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Jong Hoon Park, Si Houn Hahn, Kee Hwan Yoo, Kwang Chul Lee, Chang Sung Sohn, Pyung Hwa Choe
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Clin Exp Pediatr. 1989;32(7):984-989. Published online July 31, 1989
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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... |
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- Congenital Esophageal Atresia Associated with Tracheal Bronchus and Imperforate Anus.
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Si Houn Hahn, Keun Haeng Cho, Young Sook Hong, Soon Kyum Kim
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Clin Exp Pediatr. 1989;32(4):550-555. Published online April 30, 1989
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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,... |
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