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Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.低发病率人群中的苯丙酮尿症：芬兰突变的分子特征分析
J Med Genet. 1995 Dec;32(12):976-8. doi: 10.1136/jmg.32.12.976.
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Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation.立陶宛人群中的苯丙酮尿症突变及连锁单倍型：最常见的R408W突变的起源
Hum Hered. 1997 May-Jun;47(3):155-60. doi: 10.1159/000154403.
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Population genetics of phenylketonuria.苯丙酮尿症的群体遗传学
Acta Paediatr Suppl. 1994 Dec;407:19-26. doi: 10.1111/j.1651-2227.1994.tb13442.x.
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Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.苯丙氨酸羟化酶基因（PAH）的突变及其在记录群体遗传变异中的应用：魁北克的经验。
Eur J Hum Genet. 1998 Jan;6(1):61-70. doi: 10.1038/sj.ejhg.5200153.
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[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families].[经典苯丙酮尿症的DNA分析——斯洛伐克家庭的突变筛查与单倍型分析]
Bratisl Lek Listy. 1994 Apr;95(4):147-50.
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The molecular basis of phenylketonuria in Latvia.拉脱维亚苯丙酮尿症的分子基础。
Hum Mutat. 2003 Apr;21(4):398-9. doi: 10.1002/humu.9114.
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Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.立陶宛苯丙酮尿症患者中苯丙氨酸羟化酶突变和单倍型的分布情况。
Hum Hered. 1994 Mar-Apr;44(2):110-3. doi: 10.1159/000154200.
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The molecular basis of phenylalanine hydroxylase deficiency in Croatia.克罗地亚苯丙氨酸羟化酶缺乏症的分子基础。
Hum Mutat. 2003 Apr;21(4):399. doi: 10.1002/humu.9115.
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Mutation screening of phenylketonuria in the Far East of Russia.俄罗斯远东地区苯丙酮尿症的突变筛查
J Hum Genet. 1999;44(6):368-71. doi: 10.1007/s100380050180.
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Molecular basis of phenylketonuria in Cuba.古巴苯丙酮尿症的分子基础。
Hum Mutat. 2001 Sep;18(3):252. doi: 10.1002/humu.1183.
引用本文的文献
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[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].[中国甘肃苯丙酮尿症的基因分型及干预策略：1159例分析]
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jul 15;27(7):808-814. doi: 10.7499/j.issn.1008-8830.2502040.
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Spectrum of gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.约旦苯丙氨酸羟化酶缺乏症患者的基因变异谱
Biomed Rep. 2025 Jul 3;23(3):151. doi: 10.3892/br.2025.2029. eCollection 2025 Sep.
3
The struggle that is phenylketonuria: What do the patients and caregivers suffer from.苯丙酮尿症患者和照护者的苦难
Medicine (Baltimore). 2024 Jun 21;103(25):e38678. doi: 10.1097/MD.0000000000038678.
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The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.中国甘肃苯丙酮尿症患者苯丙氨酸羟化酶变异体的频谱及基因型-表型相关性。
Hum Genomics. 2023 Apr 25;17(1):36. doi: 10.1186/s40246-023-00475-7.
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Genetic etiology and clinical challenges of phenylketonuria.苯丙酮尿症的遗传病因学及临床挑战。
Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9.
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Study of the l-Phenylalanine Ammonia-Lyase Penetration Kinetics and the Efficacy of Phenylalanine Catabolism Correction Using In Vitro Model Systems.利用体外模型系统研究L-苯丙氨酸解氨酶渗透动力学及苯丙氨酸分解代谢校正的效果。
Pharmaceutics. 2021 Mar 13;13(3):383. doi: 10.3390/pharmaceutics13030383.
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Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.葡萄牙苯丙酮尿症：基于分子、生化和单体型分析的基因型-表型相关性。
Mol Genet Genomic Med. 2021 Mar;9(3):e1559. doi: 10.1002/mgg3.1559. Epub 2021 Jan 19.
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The Genetic Landscape and Epidemiology of Phenylketonuria.苯丙酮尿症的遗传景观和流行病学。
Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.
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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies.四氢生物蝶呤（BH）缺乏症的诊断和治疗共识指南。
Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8.
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The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.维吾尔族人群高苯丙氨酸血症的分子流行病学：新生儿筛查发病率及突变谱
Ann Transl Med. 2019 Jun;7(12):258. doi: 10.21037/atm.2019.05.16.
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Healed Double Empyema.已愈合的双侧脓胸。
Proc R Soc Med. 1912;5(Clin Sect):90-1. doi: 10.1177/003591571200500228.
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Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.丹麦苯丙酮尿症的分子分析：变性梯度凝胶电泳检测到的突变占99%。
Genomics. 1993 Jul;17(1):141-6. doi: 10.1006/geno.1993.1295.
4
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.西西里岛苯丙氨酸羟化酶缺乏症的突变谱：对欧洲南部高苯丙氨酸血症诊断的意义。
Hum Mol Genet. 1993 Oct;2(10):1703-7. doi: 10.1093/hmg/2.10.1703.
5
Disease gene mapping in isolated human populations: the example of Finland.孤立人群中的疾病基因定位：以芬兰为例。
J Med Genet. 1993 Oct;30(10):857-65. doi: 10.1136/jmg.30.10.857.
6
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.脊柱骨骺发育不良基因编码一种新型硫酸盐转运蛋白：通过精细结构连锁不平衡图谱进行定位克隆。
Cell. 1994 Sep 23;78(6):1073-87. doi: 10.1016/0092-8674(94)90281-x.
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Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.在欧洲和魁北克人群中，苯丙氨酸羟化酶R408W突变在两种单倍型上通过反复突变产生的起源证据。
Hum Mol Genet. 1994 Sep;3(9):1675-7. doi: 10.1093/hmg/3.9.1675.
8
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.欧洲人中苯丙氨酸羟化酶基因座R408W突变的复发情况。
Am J Hum Genet. 1995 Jan;56(1):278-86.
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Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland.芬兰智障患者中苯丙酮尿症及其他一些代谢紊乱疾病的患病率。
Acta Neurol Scand. 1967;43(5):573-9. doi: 10.1111/j.1600-0404.1967.tb05552.x.
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The Finnish population structure. A genetic and genealogical study.芬兰人口结构：一项遗传学与谱系学研究
Hereditas. 1972;71(2):195-236. doi: 10.1111/j.1601-5223.1972.tb01021.x.
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