- A Case of Propionic Acidemia
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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
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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
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Ryu J, Shin YH, Ko JS, Gwak MS, Kim GS
- KMID: 2239727
- Korean J Anesthesiol.
- 2013 Sep;65(3):257-261.
- doi: 10.4097/kjae.2013.65.3.257
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
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Choe JY, Jang KM, Min SY, Hwang SK, Kang B, Choe BH
- KMID: 2465006
- J Korean Med Sci.
- 2019 Dec;34(47):e303.
- doi: 10.3346/jkms.2019.34.e303
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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- Organic Acidemias in Korea: Three Years Experience of Organic Acid Analysis
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Choi YK, Kim ES, Bae EJ, Park WI, Lee KJ, Lee HJ
- KMID: 2335686
- J Korean Pediatr Soc.
- 2002 Nov;45(11):1346-1358.
PURPOSE: We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea. METHODS: The results of quantitative organic acid analysis of 1,125... -
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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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- Organic acidemias in Korea: Eight years experience of organic acid analysis
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Bang JS, Lim SH, Lee KH, Bae EJ, Park WI, Lee HJ
- KMID: 2278583
- Korean J Pediatr.
- 2006 Mar;49(3):258-267.
- doi: 10.3345/kjp.2006.49.3.258
PURPOSE: We have done this retrospective study to know the relative incidence and clinical manifestations of organic acidopathies in Korea during 8 years(from Jul. 1997 to May 2005). This results... -
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- Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
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Lee EH, Ko JM, Kim JM, Yoo HW
- KMID: 2280191
- Korean J Pediatr.
- 2008 Sep;51(9):964-970.
- doi: 10.3345/kjp.2008.51.9.964
PURPOSE: Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of... -
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- Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients
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Cheong HJ, Kim HR, Lee SS, Bae EJ, Park WI, Lee HJ, Choi HC
- KMID: 2281676
- Korean J Pediatr.
- 2009 Feb;52(2):199-204.
- doi: 10.3345/kjp.2009.52.2.199
PURPOSE: Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with... -
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