- A Suspect Case of Medium Chanin Acyl-Coenzyme A Dehydrogenase Deficiency with Iron Deficiency Anemia
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Ko IY, Lee SH, Kim HM
- KMID: 2072548
- Korean J Pediatr Hematol Oncol.
- 2005 Oct;12(2):335-340.
Iron deficiency anemia is a common disorder during infancy and childhood. Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. However, this metabolic... -
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- Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
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An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH
- KMID: 2362253
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S45-S48.
- doi: 10.3345/kjp.2016.59.11.S45
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in... -
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- Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry
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Cheon CK, Choi HS, Kim SY, Yoo HW, Kim GH
- KMID: 2055570
- J Genet Med.
- 2012 Jun;9(1):42-46.
- doi: 10.5734/JGM.2012.9.1.42
Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay,... -
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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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- Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
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Woo HI, Park HD, Lee YW, Lee DH, Ki CS, Lee SY, Kim JW
- KMID: 1096662
- Korean J Lab Med.
- 2011 Jan;31(1):54-60.
- doi: 10.3343/kjlm.2011.31.1.54
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death... -
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- What is the Key Step in Muscle Fatty Acid Oxidation after Change of Plasma Free Fatty Acids Level in Rats?
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Doh KO, Suh SD, Kim JY
- KMID: 1600060
- Korean J Physiol Pharmacol.
- 2005 Jun;9(3):173-177.
The purpose of this study was to discern the critical point in skeletal muscle fatty acid oxidation by changing plasma free fatty acids (FFA) level in rat. In the study,... -
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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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- The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase (MCAD) Gene in Neonates Determined from Guthrie Card
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Lee BH, Park HW, Park MS, Park HJ, Choi Y, Cheong HI
- KMID: 2335306
- J Korean Pediatr Soc.
- 1997 Dec;40(12):1645-1651.
PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death... -
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- Search for Differentially Expressed Genes in Preterm Human Placentae and Their Membranes by Annealing Control Primer System
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Ko HS, Kim YH, Kil KC, Jeong JH, Yang DE, Chung DY, Park TC, Kim SP, Shin JC
- KMID: 2072119
- Korean J Perinatol.
- 2005 Dec;16(4):300-308.
OBJECTIVE: The aim of this study was to investigate the gene expression profiles using GeneFishingTM kit in human placentae and their membranes delivered at preterm caused by preterm labor. METHODS: Specimens... -
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- Methionine Adenosyltransferase 1: A Proteomic Surrogate Marker of Early Hepatocellular Carcinoma in Cirrhotic Patients
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Lee JH, Jun MJ, Shim JH, Song GW, Tak E, Oh B, Yu E, Choi SW, An J, Lee D, Kim KM, Lim YS, Lee HC, Chung YH, Lee YS
- KMID: 2409646
- J Liver Cancer.
- 2018 Mar;18(1):33-43.
- doi: 10.17998/jlc.18.1.33
BACKGROUND/AIMS: Because there is a lack of effective biomarkers, we aimed to discover proteomic candidate markers for hepatocellular carcinoma (HCC) in cirrhotic patients at the highest-risk of HCC, and to... -
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