- 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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- 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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- Pterin & DHPR measurement and DNA analysis in Korean PKU patients
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Chong CH, Lee HY, Lee DH, Lee SJ, Cha KW, Yim JB, Okano Y
- KMID: 2208554
- J Korean Pediatr Soc.
- 1993 Dec;36(12):1681-1690.
Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production... -
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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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- The Study of DNA Mutations of Phenylketonuria in Koreans
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Yoo SJ, Hong YH, Lee YW, Jung SC, Ki CS, Lee DH
- KMID: 2184444
- J Genet Med.
- 2008 Jun;5(1):26-33.
PURPOSE: Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the... -
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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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- 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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