An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
作者信息
Scriver C R
出版信息
J Clin Invest. 1998 Jun 15;101(12):2613-4. doi: 10.1172/JCI3928.
Abstract
摘要
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An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.关于苯丙酮尿症中苯丙氨酸羟化酶缺乏症的持续争论。
J Clin Invest. 1998 Jun 15;101(12):2613-4. doi: 10.1172/JCI3928.
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Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased.苯丙酮尿症。苯丙氨酸在体内羟化生成酪氨酸的速率降低。
J Clin Invest. 1998 Jun 15;101(12):2875-80. doi: 10.1172/JCI737.
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In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.苯丙氨酸羟化酶突变的体外表达分析：将基因型与表型以及结构与功能联系起来
Hum Mutat. 1998;11(1):4-17. doi: 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L.
3
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria.人苯丙氨酸羟化酶催化结构域的晶体结构揭示了苯丙酮尿症的结构基础。
Nat Struct Biol. 1997 Dec;4(12):995-1000. doi: 10.1038/nsb1297-995.
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Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.人类苯丙氨酸羟化酶突变与高苯丙氨酸血症表型：基因型-表型相关性的荟萃分析
Am J Hum Genet. 1997 Dec;61(6):1309-17. doi: 10.1086/301638.
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PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.PAH突变分析联盟数据库：1997年。关系型基因座特异性突变数据库的原型。
Nucleic Acids Res. 1998 Jan 1;26(1):220-5. doi: 10.1093/nar/26.1.220.
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Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study.
Pediatr Res. 1997 Oct;42(4):430-5. doi: 10.1203/00006450-199710000-00002.
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In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.苯丙酮尿症患者体内苯丙氨酸的代谢：对两名同胞的研究。
J Inherit Metab Dis. 1996;19(5):595-602. doi: 10.1007/BF01799832.
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The molecular basis of dominance.显性的分子基础。
Genetics. 1981 Mar-Apr;97(3-4):639-66. doi: 10.1093/genetics/97.3-4.639.
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Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.经典型苯丙酮尿症患者体内存在显著的苯丙氨酸羟基化作用。
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