- A study for mass screening of galactosemia using galactitol level by spot urine method among Korean infants
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Kim JT, Bae CW, Chung SJ, Ahn CI
- KMID: 1691746
- J Korean Pediatr Soc.
- 1991 Jul;34(7):949-958.
No abstract available. -
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- Food Protein-Induced Enterocolitis Syndrome in a Neonate with Peripheral Epimerase Deficiency Galactosemia
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Hwang JM, Oh SH, Hong YH, Kim SS, Jin JY
- KMID: 1797809
- Soonchunhyang Med Sci.
- 2015 Jun;21(1):31-35.
- doi: 10.0000/sms.2015.21.1.31
Food protein-induced enterocolitis syndrome (FPIES) is a severe infantile form of non-immunoglobulin E-mediated gastrointestinal food hypersensitivity that manifests as profuse, repetitive vomiting, often with diarrhea, which leads to acute dehydration... -
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- A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia
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Lim RK, Byun SY, Park SS, Kim YD
- KMID: 2144479
- J Korean Soc Neonatol.
- 2010 May;17(1):136-140.
Galactosemia is a group of inherited enzyme deficiencies characterized by increase in the blood galactose levels. This condition may be associated with deficiencies of galactose-1-phosphate uridyl transferase, galactokinase, or uridine... -
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- Galactosemia
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Yang SH
- KMID: 2168071
- Hanyang Med Rev.
- 2005 Aug;25(3):37-41.
Galactosemia, a term that denotes the presence of galactose in the blood, is the name of rare inborn error of galactose metabolism due to a deficiency of the enzyme galactokinase... -
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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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- The etiologies of neonatal cholestasis
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Ko JS, Seo JK
- KMID: 2140811
- Korean J Pediatr.
- 2007 Sep;50(9):835-840.
- doi: 10.3345/kjp.2007.50.9.835
Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical... -
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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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- Cow mild allergy in infant who neonatal onset
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Park SH, Lee MI, Ahn DH, Sohn KC
- KMID: 2042035
- J Korean Pediatr Soc.
- 1993 Oct;36(10):1383-1388.
Cow milk allergy can be defined as an adverse immunologic reactions to cow milk protein. The term is often mistakenly applied to other causes of milk intolerence, such as lactase... -
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- Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy
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Cho SY, Kim S, Chung SK
- KMID: 2466189
- J Korean Ophthalmol Soc.
- 2019 Dec;60(12):1318-1322.
- doi: 10.3341/jkos.2019.60.12.1318
PURPOSE: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient. CASE SUMMARY: A 6-year-old female presented with bilateral ground... -
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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 (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 (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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- 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 (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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- Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene
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Kim YJ, Rim SH, Shin YL, Yoo HW
- KMID: 2207362
- J Korean Pediatr Soc.
- 2001 Oct;44(10):1201-1205.
Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed... -
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- Report on the External Quality Assessment Scheme for Metabolite Testing in Korea (2016–2017)
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Lee SY
- KMID: 2437180
- J Lab Med Qual Assur.
- 2018 Sep;40(3):136-148.
- doi: 10.15263/jlmqa.2018.40.3.136
External quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as extended newborn screening... -
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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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- Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote
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Yang HR, Kim JE, Ko JS, Song JH, Park SS, Seo JK
- KMID: 1601082
- Korean J Pediatr Gastroenterol Nutr.
- 2003 Mar;6(1):84-89.
Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of... -
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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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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2005)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 2200712
- J Lab Med Qual Assur.
- 2006 Jun;28(1):135-152.
The trial of external quality assessment for inborn error of metabolism was performed in 2005. Total 11 specimens for the conventional newborn screening tests were distributed to 47 laboratories. The... -
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