- A Case of Glucose-6-phosphate dehydrogenase Riley Causing Hemolytic Anemia
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Park SW, Lee HJ, Lee W, Whang KT
- KMID: 2083383
- Korean J Hematol.
- 1999 May;34(2):334-337.
A glucose-6-phoshate dehydrogenase variant called G6PD Riley was detected in an Korean boy with nonspherocytic hemolytic anemia. Using polymerase chain reaction based single-strand conformation polymorphism (PCR-SSCP) followed by DNA sequence... -
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- A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
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Moon KH, Gwon OS, Lee JI, Rho SW, Jeon SS, Seo SS
- KMID: 2335536
- J Korean Pediatr Soc.
- 2001 Apr;44(4):469-474.
Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect... -
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- A Case of Maple Syrup Urine Disease Controlled by Peritoneal Dialysis and Diet
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Kim JW, Huh J, Park WI, Lee KJ, Lee HJ
- KMID: 1605948
- J Korean Pediatr Soc.
- 2001 Jan;44(1):94-98.
Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain alpa-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of... -
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- Effects of Some Amino Acids on Ammonia Secretion and Extracellular Protease Activity by Three Oomycetes in Synthetic Medium with or without Glucose
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Ali EH
- KMID: 2052861
- Mycobiology.
- 2005 Mar;33(1):23-29.
- doi: 10.4489/MYCO.2005.33.1.023
The effects of different concentrations of three amino acids as carbon and or nitrogen sources on mycelial dry weights, changes in pH values of synthetic medium, ammonia secretion and extracellular... -
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- Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
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Lee JH, Kim EY
- KMID: 1769358
- Ann Pediatr Endocrinol Metab.
- 2014 Dec;19(4):229-231.
- doi: 10.6065/apem.2014.19.4.229
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of... -
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- Response of Achlya racemosa, A. proliferoides and Saprolegnia furcata to Sub-lethal Treatments of Amino Acids
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Ali EH
- KMID: 2312405
- Mycobiology.
- 2003 Jun;31(2):86-94.
The effect of four sub-lethal concentrations (400, 800, 1,200 and 1,600 microg/ml) of three amino acids such as isoluecine, aspartic acid and phenylalanine on vegetative growth and sexual and asexual... -
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- A Case of Partial Trisomy 9p Syndrome with 3-Ketothiolase Deficiency
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Na HJ, Lim HC, Lim BK, Lee HY, Cha BH
- KMID: 2329596
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):375-379.
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly... -
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- A Case of Maple Syrup Urine Disease
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Cho DH, Lee HM, Kim SY, Ra CS
- KMID: 1945759
- J Korean Pediatr Soc.
- 1997 Sep;40(9):1297-1302.
Maple syrup urine disease (MSUD) is an autosomal recessive disease caused by a deficiency in subunits of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). The disease is characterized by the accumulation... -
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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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- The Amino Acid Compositions of Formula for Children with Inherited Metabolic Disorder
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Ryu KH, Kim JS, Lee EH, Kwon IS, Hahn SH
- KMID: 2335559
- J Korean Pediatr Soc.
- 2002 Jan;45(1):37-43.
PURPOSE: This study aimed to determine the amino acids composition, safety and efficacy of formulas recently developed by Korean dairy companies for children with inherited metabolic disorder. METHODS: The determination of... -
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- Polymorphism of M341I in the Type A Human Natriuretic Peptide Receptor Gene in Essential Hypertension in Korea
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Cho SE, Hong KS, Kim YD
- KMID: 2283999
- Ewha Med J.
- 2012 Sep;35(2):95-101.
- doi: 10.12771/emj.2012.35.2.95
OBJECTIVES: There are 3 subtypes of natriuretic peptide (NP) receptors: type A natriuretic peptide receptor (NPRA), NPRB, and NPRC. The NPRA gene polymorphism, consisting of substition of methionine (ATG) to... -
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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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- Mutations at the Gene Encoding the 'a' Determinant of HBsAg in Chronic Hepatitis B Patients with Concurrent HBsAg and Anti-HBs Positivity
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Park JW, Yoon JH, Hwang YJ, Lee HS, Kim CY
- KMID: 2084726
- Korean J Gastroenterol.
- 1997 Feb;29(2):182-191.
BACKGROUND/AIMS: A humoral escape mutant of hepatitis B virus(HBV) having mutations at HBsAg a' determinant has been found in patients with concurrent HBsAg and anti-HBs in sera. This study was... -
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- Genetic Susceptibilities of MCP-1 and CCR2 to the Risk for Korean Allergic Rhinitis Patients Using Polymorphism Study
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Lee JH, Choi TW, Oh CK, Park SY, Yoon SW, Oh GJ, Kim JJ
- KMID: 2276098
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Feb;47(2):127-131.
BACKGROUND AND OBJECTIVES: A biallelic A/G polymorphism in the Monocyte chemotactic protein (MCP) -1 at position -2518 has been found to affect the level of MCP-1 expression. To investigate if... -
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- Prospective Study on Efficacy of Oral Supplement of Branched-Chain Amino Acid Granules on the Nutritional Status of the Cirrhotics
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Song KH, Kim MS, Han KH, Lee KS, Chon CY, Moon YM, Ahn SH, Lee JH
- KMID: 2241231
- Korean J Hepatol.
- 2001 Dec;7(4):432-438.
BACKGROUND/AIMS: A prospective comparative study was conducted to investigate the efficacy of orally administered branched-chain amino acids (BCAA) in cirrhotic patients. METHODS: Forty-seven patients with liver cirrhosis of viral etiologies,... -
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- Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation
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Ko JM, Shin CH, Yang SW, Cheong HI, Song J
- KMID: 1737959
- J Genet Med.
- 2014 Jun;11(1):22-26.
- doi: 10.5734/JGM.2014.11.1.22
Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been... -
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- Polymorphism of Melanocortin-4 Receptor and Obesity
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Kim HS, Lee IK, Suh YS
- KMID: 2063401
- J Korean Diabetes Assoc.
- 2003 Apr;27(2):123-131.
BACKGROUND: The application of genetics to obesity has made remarkable progress in recent years. The melanocortin-4 receptor (MC4R) regulates food intake, and possibly that of energy expenditure. The MC4R gene... -
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- Effect of Oral Supplementation with Branched-chain Amino Acid (BCAA) during Radiotherapy in Patients with Hepatocellular Carcinoma: A Double-Blind Randomized Study
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Lee IJ, Seong J, Bae JI, You SH, Rhee Y, Lee JH
- KMID: 1804672
- Cancer Res Treat.
- 2011 Mar;43(1):24-31.
PURPOSE: The present study evaluated whether oral supplementation with a branched-chain amino acid (BCAA) improves the biochemical and amino acid profiles of liver tumor patients undergoing radiotherapy. MATERIALS AND METHODS: Patients... -
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- Effects of Intrarenal Arterial Infusion of Atrial Natriuretic Peptide Analogs on Renal Function in Unanesthetized Rabbits
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Choi BS, Wen JF, Jin H, Kim SH, Kang NP, Cho KW
- KMID: 2254455
- Korean J Nephrol.
- 2002 Jan;21(1):55-66.
BACKGROUND: Atrial cardiomyocytes synthesize, store and release atrial natriuretic peptide(ANP) which has potent physiological effects, including natriuresis, diuresis, relaxation of vascular smooth muscle and inhibition of aldosterone and renin secretion.... -
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- In Vivo Proton MR Spectroscopic Change of Experimental Rat Brain Abscess Model
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Lee CH, Lim KH, Lee JH, Kwun BD
- KMID: 2188509
- J Korean Neurosurg Soc.
- 1999 Oct;28(10):1429-1439.
OBJECTIVE: This study was designed to clarify the phasic changes and distinctive spectral features of the brain abscess in the in vivo proton MR spectroscopy during the processes of abscess... -
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