- The prevalence of pediatric endocrine and metabolic diseases in Korea
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Lee DH
- KMID: 2280289
- Korean J Pediatr.
- 2008 Jun;51(6):559-563.
- doi: 10.3345/kjp.2008.51.6.559
The government neonatal screening program has a 17-years history. Therefore, it can now provide information on the prevalence of endocrine and metabolic diseases which included in neonatal screening. Knowledge of... -
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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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- 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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- Two Cases of Isolated Hypermethioninemia Found by Neonatal Mass Metabolic Screening Tests
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Choi TY, Kim WB, Lee DH
- KMID: 2300529
- Korean J Clin Pathol.
- 1998 Dec;18(4):546-549.
The neonatal screening test for homocystinuria has mostly measured methionine by use of dried blood specimen. Isolated hypermethioninemia, clinically benign metabolic disorder associated with the deficiency of methionine adenosyl transferase... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2003)
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Kim JW, Kwon KC, Kim CH, Min WK, Baik BY, Song J, Lee SY, Lee EH, Choi TY
- KMID: 1895337
- J Lab Med Qual Assur.
- 2004 Jun;26(1):137-146.
The trial of external quality assessment for inborn error of metabolism was performed in 2003. A total 10 specimens for neonatal screening tests were distributed to 43 laboratories with a... -
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- Establishment of Cutoff Value in the Neonatal Screening Tests
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Kim YJ, Kim JH, Cheon SI, Min WK, Shin YL, Yoo HW
- KMID: 2193668
- J Korean Soc Pediatr Endocrinol.
- 2001 Jun;6(1):43-51.
PURPOSE: This study was undertaken to determine the adequate cutoff value of the neonatal screening test to decrease recall and false-positive rates. METHODS: During the period of January 1999 through December... -
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- Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
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Lee SH, Hong YH
- KMID: 2284108
- Korean J Pediatr.
- 2014 Jul;57(7):329-332.
- doi: 10.3345/kjp.2014.57.7.329
3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the... -
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- The Correlation Between the TSH Level in Neonatal Screening Test and the Prognosis of Congenital Hypothyroidism
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Park HS, Shim KS, Choeh K
- KMID: 1605925
- J Korean Pediatr Soc.
- 2001 Jan;44(1):25-31.
PURPOSE: It is important to diagnose and treat newborn patients with congenital hypothyroidism as soon as possible because of neurodevelopmental outcome. If we can detect more severe forms of congenital... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2001)
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Kim JW, Kwon KC, Kim JH, Min WK, Park SY, Baik BY, Song J, Lee SY, Lee EH, Choi TY
- KMID: 1596824
- J Clin Pathol Qual Control.
- 2002 Jun;24(1):117-126.
The trial of external quality assessment for inborn error of metabolism was performed in 2001. Total 5 specimens for neonatal screening tests were distributed to 68 laboratories with a response... -
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- Newborn Screening for Critical Congenital Heart Defects Using Pulse Oximetry
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Shin J, Choi BM
- KMID: 2468551
- Perinatology.
- 2018 Jun;29(2):63-71.
- doi: 10.14734/PN.2018.29.2.63
Critical congenital heart defects can lead to serious morbidity and mortality if not found at the appropriate time. Although prenatal ultrasound and postnatal neonatal physical examination can detect the majority... -
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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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- Transiently Evoked Otoacoustic Emission Screening of Neonate
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Park HM, Chung SY, Lee HJ, Rhee CK, Chang YP
- KMID: 2274301
- Korean J Otolaryngol-Head Neck Surg.
- 1997 Feb;40(2):258-264.
Many features of transiently evoked otoacoustic emission(TEOE) are ideal for clinical use, including their ability to objectively measure cochlear function. TEOE can be used to accurately and efficiently screen for... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2000)
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Kim JW, Kwon KC, Kim JH, Min WK, Park SY, Baik BY, Song J, Lee SY, Lee EH, Choi TY
- KMID: 1963105
- J Clin Pathol Qual Control.
- 2001 Jun;23(1):157-174.
Two trials of external quality assessment for inborn error of metabolism was performed in 2000. Total 11 specimens for neonatal screening tests were distributed to 68 laboratories with a response... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (1998)
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Kim JW, Kwon KC, Kim CH, Min WK, Park SY, Baik BY, Song JH, Lee SY, Lee EH, Choi TY
- KMID: 2055388
- J Clin Pathol Qual Control.
- 1999 Jun;21(1):143-146.
Second trial of external quality assessment for inborn error of metabolism was performed in 1998. A total six specimens for neonatal screening test were distributed to 57 laboratories with a... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (1997)
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Kim JW, Min WK, Kim JU, Kim UL, Kwon KC, Park SS, Choi TY
- KMID: 2135522
- J Clin Pathol Qual Control.
- 1998 Jun;20(1):137-146.
Single trial of external quality assessment for inborn error of metabolism was performed in 1997. A total six specimens among seven of QC materials for neonatal screening test was distributed... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (1999)
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Kim J, Kwon K, Kim C, Min W, Park S, Han T, Song J, Lee S, Lee E, Choi T
- KMID: 1561314
- J Clin Pathol Qual Control.
- 2000 Jun;22(1):139-152.
Two trials of external quality assessment for inborn error of metabolism was performed in 1999. In Trial 1, 6 specimens for neonatal screening test were distributed to 56 laboratories with... -
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- Spectrum of patients with hypermethioninemia based on neonatal screening tests over 14 years
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Oh SJ, Hong YH, Lee YW, Lee DH
- KMID: 2281313
- Korean J Pediatr.
- 2010 Mar;53(3):329-334.
- doi: 10.3345/kjp.2010.53.3.329
PURPOSE: The neonatal screening test for homocystinuria primarily measures methionine by using a dried blood specimen. We investigated the incidence and clinical manifestations of homocystinuria, isolated hypermethioninemia, and transient hypermethioninemia... -
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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2002)
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Kim JW, Kwon KC, Kim JH, Min WK, Kim MS, Han HJ, Song J, Lee SY, Lee EH, Choi TY
- KMID: 1820199
- J Lab Med Qual Assur.
- 2003 Jun;25(1):145-155.
The trial of external quality assessment for inborn error of metabolism was performed in 2002. Total 10 specimens for neonatal screening tests were distributed to 61 laboratories with a response... -
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- The Prognosis and Factors of Neonatal Thyroid Dysfunction
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Kim YY, Kim KS, Kim YW, Kim KB
- KMID: 1946270
- J Korean Pediatr Soc.
- 2000 Jan;43(1):23-33.
PURPOSE: The function of the neonatal thyroid is affected transiently or consistently by various maternal thyroid diseases, neonatal diseases, drugs, and more as well as thyroid dysgenesis. In this study,... -
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- Follow-up Study of Hyperthyrotropinemia Detected by Neonatal Screening Test
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Paik KH, Kim SH, Jin DK
- KMID: 2322000
- J Korean Soc Pediatr Endocrinol.
- 2002 Dec;7(2):215-220.
PURPOSE: To understand natural course of transient hyperthyrotropinemia, so that the unnecessary treatment could be avoided. METHODS: Total 182 healthy newborns whose TSH levels in newborn screening test had been higher... -
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