- A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet
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Kim JW, Huh J, Park WI, Lee KJ, Lee HJ
- KMID: 1605948
- J Korean Pediatr Soc.
- 2001 Jan;44(1):94-98.
Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain alpa-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of... -
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- A Case of Maple Syrup Urine Disease
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Cho DH, Lee HM, Kim SY, Ra CS
- KMID: 1945759
- J Korean Pediatr Soc.
- 1997 Sep;40(9):1297-1302.
Maple syrup urine disease (MSUD) is an autosomal recessive disease caused by a deficiency in subunits of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). The disease is characterized by the accumulation... -
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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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- A Case of Maple Syrup Urine Disease detected by Tandem Mass Spectrometry in Newborn Screening Test
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O CG, Jung YS, Yoo BH, Lee DK, Lim IS
- KMID: 2188691
- J Korean Soc Neonatol.
- 2003 May;10(1):88-93.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder. Impaired activity of the branched-chain 2-oxo acid dehydrogenase complex causes accumulation of branched-chain L-amino and 2-oxo acid that can exert... -
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- A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
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Moon KH, Gwon OS, Lee JI, Rho SW, Jeon SS, Seo SS
- KMID: 2335536
- J Korean Pediatr Soc.
- 2001 Apr;44(4):469-474.
Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect... -
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- Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation
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Ko JM, Shin CH, Yang SW, Cheong HI, Song J
- KMID: 1737959
- J Genet Med.
- 2014 Jun;11(1):22-26.
- doi: 10.5734/JGM.2014.11.1.22
Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been... -
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- Amino acid metabolism disorders
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Lee DH
- KMID: 2168074
- Hanyang Med Rev.
- 2005 Aug;25(3):65-78.
Deficiencies of enzymes involved in amino acid metabolism frequently result in accumulation of toxic substances and subsequent organ damage. The brain, liver and kidneys are the most frequently affected organs.... -
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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 (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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- 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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- 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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- Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2004)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 1584041
- J Lab Med Qual Assur.
- 2005 Jun;27(1):125-140.
The trial of external quality assessment for inborn error of metabolism was performed twice in 2004. Total 10 specimens for the conventional newborn screening tests were distributed to 43 laboratories.... -
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- Newborn screening of inherited metabolic disease in Korea
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Lee DH
- KMID: 2280059
- Korean J Pediatr.
- 2006 Nov;49(11):1125-1139.
- doi: 10.3345/kjp.2006.49.11.1125
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for... -
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- Annual Report on External Quality Assessment in Metabolic Disorders in Korea (2009)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 2200553
- J Lab Med Qual Assur.
- 2010 Jun;32(1):131-146.
Two trials of external quality assessment for conventional newborn screening tests for phenylketonuria, congenital hypothyroidism, galactosemia, maple syrup urine disease and homocytinuria and for the newborn screening tests using tandem... -
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- Annual Report on External Quality Assessment of Biochemical Genetics in Korea (2013)
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Lee SY, Biochemical Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory
- KMID: 2200442
- J Lab Med Qual Assur.
- 2014 Jun;36(2):64-70.
Two trials of external quality assessment (EQA) of conventional newborn screening tests for phenylketonuria, galactosaemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as of... -
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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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- Annual Report on External Quality Assessment in Metabolic Disorders in Korea (2007)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 2200643
- J Lab Med Qual Assur.
- 2008 Jun;30(1):151-166.
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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- Organic acidemias in Korea
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Lee HJ
- KMID: 2168073
- Hanyang Med Rev.
- 2005 Aug;25(3):49-64.
Since we started organic acid analysis in July 1997, we have collected data about organic acidemias in Korea. The data presented herein constitute our 3 years experience in organic acid... -
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