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Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU.

作者信息

Lichter-Konecki U, Rupp A, Konecki D S, Trefz F K, Schmidt H, Burgard P

机构信息

University Children's Hospital, Heidelberg, Germany.

出版信息

J Inherit Metab Dis. 1994;17(3):362-5. doi: 10.1007/BF00711831.

DOI:10.1007/BF00711831
PMID:7807954
Abstract
摘要

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1
Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU.苯丙酮尿症疾病中苯丙氨酸羟化酶基因型与诊断及治疗表型参数之间的关系。德国苯丙酮尿症协作研究。
J Inherit Metab Dis. 1994;17(3):362-5. doi: 10.1007/BF00711831.
2
[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
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R252W/E178G phenylalanine hydroxylase genotype in a Romanian non-PKU hyperphenylalaninaemic patient.一名罗马尼亚非苯丙酮尿症高苯丙氨酸血症患者的R252W/E178G苯丙氨酸羟化酶基因型
Acta Paediatr. 1998 Oct;87(10):1103-4. doi: 10.1080/080352598750031527.
4
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.苯丙氨酸羟化酶基因中R68G和R68S突变的体外表达分析
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5
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria.
Eur J Pediatr. 1996 Jul;155 Suppl 1:S11-5. doi: 10.1007/pl00014222.
6
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.土耳其苯丙酮尿症人群中残留体外苯丙氨酸羟化酶活性的分子遗传学及其对四氢生物蝶呤反应性的影响。
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Molecular basis of mild hyperphenylalaninaemia in Turkey.土耳其轻度高苯丙氨酸血症的分子基础。
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8
In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.通过苯丙氨酸呼气试验对苯丙氨酸羟化酶进行的体内研究：四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的诊断
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PKU and NON-PKU hyperphenylalaninemia: differentiation, indication for therapy and therapeutic results.
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Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.基于苯丙酮尿症（PAH）基因型预测代谢性苯丙氨酸羟化酶缺乏表型的验证：立陶宛苯丙酮尿症/轻度高苯丙氨酸血症（PKU/MHP）患者的调查
Med Sci Monit. 2003 Mar;9(3):CR142-6.

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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers.遗传性代谢紊乱：临床表现、临床类型、实验室诊断及遗传标记物
Orphanet J Rare Dis. 2025 Aug 11;20(1):422. doi: 10.1186/s13023-025-03979-8.
2
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.苯丙酮尿症患者在2岁时就可以可靠地评估其苯丙氨酸耐受性。
J Inherit Metab Dis. 2009 Feb;32(1):27-31. doi: 10.1007/s10545-008-0937-3. Epub 2009 Jan 10.
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Molecular basis of mild hyperphenylalaninaemia in Poland.

本文引用的文献

1
Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.瑞典苯丙酮尿症和高苯丙氨酸血症患者的基因型与表型之间的关系。
Eur J Pediatr. 1993 Feb;152(2):132-9. doi: 10.1007/BF02072490.
2
The phenylketonuria G272X haplotype 7 mutation in European populations.欧洲人群中苯丙酮尿症G272X单倍型7突变
Hum Genet. 1993 Sep;92(2):107-9. doi: 10.1007/BF00219674.
3
Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.通过基因分型分析促进高苯丙氨酸血症表型评估。
波兰轻度高苯丙氨酸血症的分子基础。
J Med Genet. 1997 Dec;34(12):1035-6. doi: 10.1136/jmg.34.12.1035.
4
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria.
Eur J Pediatr. 1996 Jul;155 Suppl 1:S11-5. doi: 10.1007/pl00014222.
5
The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.苯丙氨酸羟化酶缺乏症中酶活性突变和苯丙氨酸耐受性的影响。
Eur J Pediatr. 1996 Jul;155 Suppl 1:S6-10. doi: 10.1007/pl00014253.
6
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.通过苯丙氨酸负荷对苯丙氨酸羟化酶基因突变进行体内评估：七种常见突变的特征分析
Eur J Pediatr. 1995 Jul;154(7):551-6. doi: 10.1007/BF02074833.
Eur J Pediatr. 1993 Dec;152(12):1048-9. doi: 10.1007/BF01957239.
4
Study design and description of patients.研究设计与患者描述。
Eur J Pediatr. 1990;149 Suppl 1:S5-12. doi: 10.1007/BF02126292.
5
Molecular basis of phenotypic heterogeneity in phenylketonuria.苯丙酮尿症表型异质性的分子基础。
N Engl J Med. 1991 May 2;324(18):1232-8. doi: 10.1056/NEJM199105023241802.
6
Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.苯丙酮尿症及相关高苯丙氨酸血症的分子基础：人类苯丙氨酸羟化酶基因中的突变与多态性
Hum Mutat. 1992;1(1):13-23. doi: 10.1002/humu.1380010104.