- A Case of Methylmalonic Acidemia
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Jeon SH, Cheon HW, Yoo KH, Hong YS, Lee JW, Hahn SH
- KMID: 1838615
- J Korean Soc Neonatol.
- 1998 Jun;5(1):61-66.
We experienced a case of vitamin B12 unresponsive methlymalonic acidemia in a 4 day old female, who had poor feeding, dehydration with metabolic acidosis, and hyperammonernia and died at 7... -
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- Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
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Kim YA, Kim JY, Kim YM, Cheon CK
- KMID: 2401811
- J Genet Med.
- 2017 Dec;14(2):80-85.
- doi: 10.5734/JGM.2017.14.2.80
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal... -
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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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