- Seventeen Years Experience on Inborn Errors of Metabolism A Study for Future Development of Inborn Errors of Metabolism in Korea
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Lee HJ, Moon HR
- KMID: 1683504
- J Korean Pediatr Soc.
- 1990 Aug;33(8):1031-1036.
No abstract available. -
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- Neonatal Screening for Inborn Errors of Metabolism
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Lee DH
- KMID: 1676871
- J Korean Pediatr Soc.
- 1987 Jan;30(1):9-16.
No abstract available. -
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- Renal Manifestations of Inborn Errors of Metabolism
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Lee HJ, Jin DK
- KMID: 1517058
- Korean J Pediatr.
- 2004 Dec;47(Suppl 4):S844-S849.
No abstract available. -
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- Renal replacement therapy in neonates with an inborn error of metabolism
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Cho H
- KMID: 2440836
- Korean J Pediatr.
- 2019 Feb;62(2):43-47.
- doi: 10.3345/kjp.2018.07143
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and certain disorders of amino acid metabolism. High levels... -
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- Inborn Errors of Metabolism in Korea
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Lee HJ
- KMID: 2185707
- J Korean Neurol Assoc.
- 2004 Feb;22(1):1-10.
Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have... -
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- Continuous Renal Replacement Therapy in Neonates
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Lee BS
- KMID: 2052450
- Neonatal Med.
- 2013 Feb;20(1):12-19.
- doi: 10.5385/nm.2013.20.1.12
Continuous renal replacement therapy (CRRT) is one of the hemofiltration-based dialysis modalities used in the management of the high risk neonates with acute renal failure, multi-organ dysfunction and inborn errors... -
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- Types of Special Infant Formulas Marketed in Korea and Their Indications
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Hong SJ
- KMID: 2415592
- Pediatr Gastroenterol Hepatol Nutr.
- 2018 Jul;21(3):155-162.
- doi: 10.5223/pghn.2018.21.3.155
Infant formula is classified into standard cow's milk-based and special formulas. This review aimed at summarizing the types of special milk formulas currently sold in Korea, and the appropriate indications... -
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- A case of Hyperornithinemia-Hyperam monemia-Homocitrullinuria Syndrome: a Patient Who Visited the Emergency Center with Mental Change
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Jeong WJ, Han SK, Yi HY, Lee WS, Ryu S, Lee JW, Kim SW, Yoo IS, You YH
- KMID: 2332232
- J Korean Soc Emerg Med.
- 2008 Apr;19(2):225-228.
Rapid ammonia elevation in blood with accompanying mental change should be considered as a true medical emergency. In such a case, action leading to immediate diagnosis and the earliest possible... -
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- A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
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Yoon HC, Kim NC, Lee DH
- KMID: 2278671
- Korean J Pediatr.
- 2005 Apr;48(4):369-375.
PURPOSE: Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In... -
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- Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency
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Yoo HW, Kim GH
- KMID: 1064966
- J Korean Med Sci.
- 1998 Apr;13(2):179-185.
- doi: 10.3346/jkms.1998.13.2.179
Ornithine transcarbamylase (OTC) deficiency, an X-linked inborn error of the urea cycle, leads to the accumulation of ammonia, causing neurologic deficits. Clinical management for the patients with OTC deficiency... -
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- Cost-benefit Analysis of Massive Screening for Inborn Errors of Metabolism in Korea
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Kim CY, Kim S, Hwang N
- KMID: 2283017
- Korean J Prev Med.
- 1999 Sep;32(3):317-324.
OBJECTIVES: Since 1991, nationwide massive neonatal screen-ing program for phenylketonuria (PKU) and congenital hypothyroidism have been performed in Korea. As in many other countries, efficiency of this program has not... -
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- Annual Report on External Quality Assessment in Metabolic Disorders in Korea (2008)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 2200581
- J Lab Med Qual Assur.
- 2009 Jun;31(1):143-159.
Two trials of external quality assessment for the newborn screening tests of inborn errors of metabolism including PKU screening, TSH, T4 (total/free), galactosemia screen, maple syrup urine disease screen and... -
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- Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
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An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH
- KMID: 2362253
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S45-S48.
- doi: 10.3345/kjp.2016.59.11.S45
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in... -
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- Two Cases of Benign Non - Familial Neonatal Convulsion
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Hur YJ, Jeon JH
- KMID: 1468166
- J Korean Child Neurol Soc.
- 2009 May;17(1):97-101.
Benign idiopathic neonatal convulsion is a rare disorder which has no family history of convulsion and develops before and after the 5th day in a healthy full-term neonate. Its characteristics... -
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- Congenital chloride diarrhea
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Yim SM, Jo YS, Jang DG, Lee JH, Lee G
- KMID: 2078107
- Korean J Obstet Gynecol.
- 2012 Aug;55(8):573-577.
- doi: 10.5468/KJOG.2012.55.8.573
A 28-year-old primigravida woman had marked polyhydramnios and multiple dilated bowel loops were seen in the fetal abdomen on prenatal ultrasound, we suspected the ileal atresia. After birth by preterm... -
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- Quantification of Organic Acids in Amniotic Fluid for Prenatal Diagnosis of Organic Acidemia
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Koh CB, Shin DS, Bae EJ, Park WI, Lee KJ, Lee HJ, Jo Y, Lee SW, Noh US
- KMID: 2073200
- Korean J Pediatr.
- 2004 Oct;47(10):1047-1052.
PURPOSE: Since 1997, the quantification of organic acids in urine has become possible in Korea. This helped to diagnose a great variety of inborn errors of metabolism. However, we still... -
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- A Korean Family with Cholesterol Ester Transfer Protein Deficiency
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Youn SY, Shin IS, Hong YH, Lee DH
- KMID: 2055569
- J Genet Med.
- 2012 Jun;9(1):38-41.
- doi: 10.5734/JGM.2012.9.1.38
A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum... -
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- A Cost-Benefit Analysis of Neonatal Screening Tests for Maple Syrup Urine Disease, Homocystinuria, Galactosemia, and Congenital Adrenal Hyperplasia
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Park SY, Kim DI, Lee DH
- KMID: 2184455
- J Genet Med.
- 2008 Dec;5(2):111-118.
PURPOSE: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that... -
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- Hypoadiponectinemia in Patients With Paroxysmal Atrial Fibrillation
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Choi BJ, Heo JH, Choi IS, Lee SW, Kim HS, Lee JW, Cha TJ
- KMID: 1826463
- Korean Circ J.
- 2012 Oct;42(10):668-673.
- doi: 10.4070/kcj.2012.42.10.668
BACKGROUND AND OBJECTIVES: Adiponectin is an adipose tissue-derived hormone that has beneficial effects on cardiac function and has been reported to be associated with lipid metabolism, glucose metabolism, and insulin... -
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- Recheck Rate, Recall Rate and Reference Range of the Neonatal Screening Test for Congenital Hypothyroidism
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Lee JM, Choi TY, Lee DW, Lee DH
- KMID: 1963111
- J Clin Pathol Qual Control.
- 2001 Jun;23(1):215-220.
BACKGROUND: Recently neonatal mass screening tests on inborn errors of metabolism have been increased rapidly. Enzyme-linked immunosorbent assay(ELISA) as a thyroid stimulating hormone (TSH) test method influenced by variable test... -
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