- A Case of Chronic Tubulointerstitial Nephritis in Methylmalonic Acidemia
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Lee JS, Koo HH, Ha TS
- KMID: 2079362
- Korean J Nephrol.
- 2003 Nov;22(6):749-752.
Methylmalonic acidemia (MMA) is a heterogeneous inborn error of propionate metabolism and its management frequently includes a low-protein diet to minimize precursors of methylmalonic acid and reduce its concentration in... -
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- Subacute Combined Degeneration Caused by Chronic Atrophic Gastritis with Spurious Elevation of Vitamin B12 Level
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Park JG, Lee H, Park MS
- KMID: 2370963
- J Korean Neurol Assoc.
- 2017 Feb;35(1):22-25.
- doi: 10.17340/jkna.2017.1.4
We report a patient who was diagnosed as subacute combined degeneration (SCD) with elevated homocysteine and methylmalonic acid levels in the situation of a spurious elevation of the vitamin B12... -
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- A Case of Methylmalonic Acidemia in a 6-month-old Infant
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Cho SJ, Rho YI, Moon KR
- KMID: 2275147
- Korean J Pediatr Gastroenterol Nutr.
- 2001 Sep;4(2):249-255.
Methylmalonic acidemia is a rare congenital autosomal recessive metabolic disease. It is caused by blocking in the pathways of isoleucine, valine, threonine, methionine, cholesterol and odd-chain fatty acids to succinyl CoA, resulting... -
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- A Case of Dietary Treatment of Vitamin B12 Non-responsive Methylmalonic Acidemia
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Song WY, Kim KS, Yoo HW
- KMID: 2142437
- J Korean Pediatr Soc.
- 1997 Apr;40(4):549-554.
Methylmalonic acidemia is a metabolic disorder of amino acid and fatty acid metabolism. A Female infant, who was diagnosed as methylmalonic acidemia based on findings; methylmalonic aciduria, metabolic acidosis with... -
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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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- 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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- Quantitation of Methylmalonic Acid by Isotope Dilution Gas Chromatography Mass Spectrometry
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Kim JU, Kim JW
- KMID: 2146203
- Korean J Clin Pathol.
- 1997 Dec;17(6):1022-1028.
BACKGROUND: Methylmalonic aciduria can be caused by inherited defects in the methylmalonyl-CoA mutase enzyme, Inherited defects in the metabolism of vitamin Bl2 and acquired or inherited vitamin Bl2 deficiency. Quantitation... -
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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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- Assessment of the Diagnostic Utility of Methylmalonic Acid in Megaloblastic Anemia due to Vitamin B12 Deficiency
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Kong SY, Nam MH, Woo HY, Lee SY, Lee KA, Kim JW, Kim SH
- KMID: 1889921
- Korean J Lab Med.
- 2002 Jun;22(3):145-152.
BACKGROUND: Methylmalonic acid (MMA) is one of the metabolites of the DNA synthesis metabolic pathway wherein vitamin B12 acts as a coenzyme. Vitamin B12 deficiency leads to inhibition of methyl-malonyl... -
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- Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2015)
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Lee SY, Ji OJ, Kwon GC, Kim JW, Park HD, Song J, Lee SG, Lee YW, Lee EH, Chun S, Choi TY, Biochemical Genetics Subcommittee, Korean Association of External Quality Assessment Service
- KMID: 2328228
- J Lab Med Qual Assur.
- 2016 Jun;38(2):68-76.
- doi: 10.15263/jlmqa.2016.38.2.68
Two 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 newborn screening... -
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- Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2014)
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Lee SY, Ji OJ, Kwon GC, Kim JW, Park HD, Song J, Lee SG, Lee YW, Lee EH, Chun S, Choi TY, Biochemical Genetics Subcommittee, The Korean Association of External Quality Assessment Service
- KMID: 2200369
- J Lab Med Qual Assur.
- 2015 Jun;37(2):56-63.
- doi: 10.15263/jlmqa.2015.37.2.56
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 newborn... -
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