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A Case of Propionic Acidemia

Yeoum WS, Lee KW, Chae BH, Lim BK, Lee HJ

  • KMID: 2335429
  • J Korean Pediatr Soc.
  • 1999 Aug;42(8):1159-1164.
Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical...
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A Case of Propionic Acidemia

Yeoum WS, Lee KW, Chae BH, Lim BK, Lee HJ

  • KMID: 2041996
  • J Korean Pediatr Soc.
  • 1999 Jun;42(6):901-907.
Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical...
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Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation: a case report

Ryu J, Shin YH, Ko JS, Gwak MS, Kim GS

Propionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by deficient activity of the mitochondrial enzyme propionyl-CoA carboxylase. The clinical manifestations are metabolic acidosis, poor feeding, lethargy,...
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Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child

Choe JY, Jang KM, Min SY, Hwang SK, Kang B, Choe BH

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as...
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