- A Case of Phenylketonuria
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Bahn KS, Lee JY, Coe CJ
- KMID: 1676127
- J Korean Pediatr Soc.
- 1985 Jan;28(1):99-102.
No abstract available. -
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- A clinical study in phenylketonuria
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Nam HK, Shim JS, Lee DH, Lee SJ, Cha KW, Yim JB
- KMID: 1945981
- J Korean Pediatr Soc.
- 1992 Jan;35(1):69-79.
No abstract available. -
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- Tissue-specific activation of mitogen-activated protein kinases for expression of transthyretin by phenylalanine and its metabolite, phenylpyruvic acid
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Park JW, Lee MH, Choi JO, Park HY, Jung SC
- KMID: 983983
- Exp Mol Med.
- 2010 Feb;42(2):105-115.
- doi: 10.3858/emm.2010.42.2.012
Phenylketonuria is an autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase. Transthyretin has been implicated as an indicator of nutritional status in phenylketonuria patients. In this study, we... -
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- Protective Effect of Recombinant Adeno-Associated Virus 2/8-Mediated Gene Therapy from the Maternal Hyperphenylalaninemia in Offsprings of a Mouse Model of Phenylketonuria
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Jung SC, Park JW, Oh HJ, Choi JO, Seo KI, Park ES, Park HY
- KMID: 1783076
- J Korean Med Sci.
- 2008 Oct;23(5):877-883.
- doi: 10.3346/jkms.2008.23.5.877
Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the... -
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- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria
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Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS
- KMID: 1104807
- Exp Mol Med.
- 2008 Oct;40(5):533-540.
- doi: 10.3858/emm.2008.40.5.533
Phenylketonuria (PKU; MIM 261600) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH; EC 1.14.16.1). Point mutations in the PAH gene are known to cause... -
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- Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
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Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca , Ragalmuto , Chiavetta , Micciche S, Romano V
- KMID: 983980
- Exp Mol Med.
- 2010 Feb;42(2):81-86.
- doi: 10.3858/emm.2010.42.2.009
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning... -
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- Two Cases of Tetrahydrobiopterin Deficiency
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Choi JW, Yang SW, Moon HR, Cho SC
- KMID: 2335149
- J Korean Pediatr Soc.
- 1995 Mar;38(3):397-403.
Tetrahydrobiopterin(BH4) deficiency is a rare type of hyperphenylalaninemia and usually leads to a progressive neurologic deterioration despite early dietary control of blood phenylalanine concentration. We experienced two cases of BH4... -
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- Amino acid metabolism disorders
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Lee DH
- KMID: 2168074
- Hanyang Med Rev.
- 2005 Aug;25(3):65-78.
Deficiencies of enzymes involved in amino acid metabolism frequently result in accumulation of toxic substances and subsequent organ damage. The brain, liver and kidneys are the most frequently affected organs.... -
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- A Cost-benefit Analysis on Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism in Korea
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Yoon HC, Kim NC, Lee DH
- KMID: 2278671
- Korean J Pediatr.
- 2005 Apr;48(4):369-375.
PURPOSE: Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In... -
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- Outpatient General Anesthesia of a Patient with Phenylketonuria: A case report
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Yang SM, Seo KS, Kim HJ, Yum KW
- KMID: 2238313
- Korean J Anesthesiol.
- 2007 Jul;53(1):136-139.
- doi: 10.4097/kjae.2007.53.1.136
Phenylketonuria (PKU), an autosomal recessive disorder, occurs in one of 53,000 births in Korea. The disorder is associated with deficient activity of phenylalanine hydroxylase. In PKU, phenylalanine cannot be used... -
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- Report on the External Quality Assessment Scheme for Metabolite Testing in Korea (2016–2017)
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Lee SY
- KMID: 2437180
- J Lab Med Qual Assur.
- 2018 Sep;40(3):136-148.
- doi: 10.15263/jlmqa.2018.40.3.136
External quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as extended newborn screening... -
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- Clinical Application of Nutrigenomics
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Kwak MS, Hahm KB, Joung HJ
- KMID: 2184664
- J Korean Med Assoc.
- 2006 Feb;49(2):163-172.
- doi: 10.5124/jkma.2006.49.2.163
Nutritional genomics (nutrigenomics) is the application of high-throughput functional genomics technologies to nutritional science lying in the interface between the nutritional environment and genetic process. It seeks to provide a... -
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- A Case of Dihydropteridine Reductase Deficiency
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Oh SJ, Hong YH, Lee YW, Lee ST, Ki CS, Lee DH
- KMID: 1473822
- J Genet Med.
- 2009 Dec;6(2):170-174.
Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of... -
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- Establishment of Cutoff Value in the Neonatal Screening Tests
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Kim YJ, Kim JH, Cheon SI, Min WK, Shin YL, Yoo HW
- KMID: 2193668
- J Korean Soc Pediatr Endocrinol.
- 2001 Jun;6(1):43-51.
PURPOSE: This study was undertaken to determine the adequate cutoff value of the neonatal screening test to decrease recall and false-positive rates. METHODS: During the period of January 1999 through December... -
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- MR Imaging of Phenylketonuria
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Hong HS, Kim DH, Lee HK, Kwon KH, Choi DL, Lee DH
- KMID: 2102980
- J Korean Radiol Soc.
- 1997 Sep;37(3):541-545.
PURPOSE: The purpose of this study was to evaluate MR findings among patients with phenylketonuria (PKU). MATERIALS AND METHODS: Eleven patients with biochemically documented PKU underwent MR imaging ; In nine,... -
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- Inborn Errors of Metabolism in Korea
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Lee HJ
- KMID: 2185707
- J Korean Neurol Assoc.
- 2004 Feb;22(1):1-10.
Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have... -
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- Annual Report on External Quality Assessment in Metabolic Disorders in Korea (2009)
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Song J, Kwon KC, Kim JH, Kim JW, Min WK, Lee SY, Lee EH, Jun SH, Choi TY
- KMID: 2200553
- J Lab Med Qual Assur.
- 2010 Jun;32(1):131-146.
Two trials of external quality assessment for conventional newborn screening tests for phenylketonuria, congenital hypothyroidism, galactosemia, maple syrup urine disease and homocytinuria and for the newborn screening tests using tandem... -
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- Cost-benefit Analysis of Massive Screening for Inborn Errors of Metabolism in Korea
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Kim CY, Kim S, Hwang N
- KMID: 2283017
- Korean J Prev Med.
- 1999 Sep;32(3):317-324.
OBJECTIVES: Since 1991, nationwide massive neonatal screen-ing program for phenylketonuria (PKU) and congenital hypothyroidism have been performed in Korea. As in many other countries, efficiency of this program has not... -
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- A case of two sisters births from mother with phenylketonuria lacking mental retardation
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Ki CS, Kim JK
- KMID: 2280465
- Korean J Pediatr.
- 2008 May;51(5):546-550.
- doi: 10.3345/kjp.2008.51.5.546
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals-like the mother of this case who have escaped mental retardation and all the other... -
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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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