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1
A clinical epidemiologic study of hyperphenylalaninemia.高苯丙氨酸血症的临床流行病学研究
Am J Public Health. 1979 Jul;69(7):673-9. doi: 10.2105/ajph.69.7.673.
2
[Serum tyrosine in children with phenylketonuria and mild hyperphenylalaninemia].[苯丙酮尿症和轻度高苯丙氨酸血症患儿的血清酪氨酸]
Med Wieku Rozwoj. 2000 Jan-Mar;4(1):5-12.
3
Dynamics of hyperphenylalaninemia and intellectual outcome in teenagers with phenylketonuria.苯丙酮尿症青少年高苯丙氨酸血症的动态变化及智力转归
Acta Biochim Pol. 2017;64(3):527-531. doi: 10.18388/abp.2017_1524. Epub 2017 Aug 31.
4
Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".足月苯丙酮尿症胎儿的脐血酪氨酸水平与“合理性假说”
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6175-8. doi: 10.1073/pnas.77.10.6175.
5
[Scleroderma-like lesions and phenylketonuria (PKU). Role of hyperphenylalaninemia, efficacy of diet (3 cases)].[硬皮病样皮损与苯丙酮尿症（PKU）。高苯丙氨酸血症的作用、饮食疗法的疗效（3例报告）]
Ann Dermatol Venereol. 1989;116(11):798-800.
6
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.非苯丙酮尿症高苯丙氨酸血症未经治疗患者的智力、神经及神经心理转归。德国苯丙酮尿症协作研究
Pediatr Res. 1997 Sep;42(3):378-84. doi: 10.1203/00006450-199709000-00020.
7
Prevention of fetal damage through dietary control of maternal hyperphenylalaninemia.通过对母体高苯丙氨酸血症进行饮食控制来预防胎儿损伤。
Clin Obstet Gynecol. 1986 Sep;29(3):580-5.
8
[Magnetic resonance imaging of the brain in phenylketonuria].[苯丙酮尿症患者脑部的磁共振成像]
No To Hattatsu. 2006 Jan;38(1):27-31.
9
Can untreated PKU patients escape from intellectual disability? A systematic review.未经治疗的苯丙酮尿症患者能否避免智力残疾？系统评价。
Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7.
10
Children with inborn errors of phenylalanine metabolism: prognosis and phenylalanine tolerance.苯丙氨酸代谢先天性缺陷患儿：预后及苯丙氨酸耐受性
Acta Paediatr Scand. 1986 Jul;75(4):619-25. doi: 10.1111/j.1651-2227.1986.tb10261.x.

本文引用的文献

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Consistency and variability in the growth of intelligence from birth to 18 years.从出生到18岁智力发展的一致性和变异性。
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CLINICAL OBSERVATIONS IN PHENYLKETONURIA.苯丙酮尿症的临床观察
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Variations with age in plasma phenylalanine and tyrosine levels in phenylketonuria.
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A one-year, controlled study of the effect of low-phenylalanine diet on phenylketonuria.一项关于低苯丙氨酸饮食对苯丙酮尿症影响的为期一年的对照研究。
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Studies on phenylketonuria. IX. Further observations on the effect of phenylalanine-restricted diet on patients with phenylketonuria.
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Effect of phenylalanine-restricted diet in phenylketonuria. II.苯丙酮尿症中苯丙氨酸限制饮食的效果。II.
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Phenylketonuria VIII. Relation between age, serum phenylalanine level, and phenylpyruvic acid excretion.苯丙酮尿症VIII. 年龄、血清苯丙氨酸水平与苯丙酮酸排泄之间的关系。
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Legislation and advances in medical knowledge--acceleration or inhibition?立法与医学知识的进步——促进还是抑制？
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Evaluation of dietary treatment in phenylketonuria: a proposed methodology.苯丙酮尿症饮食治疗的评估：一种建议的方法。
Dev Med Child Neurol. 1969 Feb;11(1):96-102. doi: 10.1111/j.1469-8749.1969.tb01400.x.

高苯丙氨酸血症的临床流行病学研究

A clinical epidemiologic study of hyperphenylalaninemia.

作者信息

Wrona R M

出版信息

Am J Public Health. 1979 Jul;69(7):673-9. doi: 10.2105/ajph.69.7.673.

DOI:10.2105/ajph.69.7.673
PMID:453394
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1619105/
Abstract

Thirty-nine cases of hyperphenylalaninemia from four diagnostic-treatment centers in Ohio were investigated in a retrospective cohort analysis. None of the centers is included in the PKU Collaborative Study. Epidemiologic analysis showed that early treatment is effective and that degree of dietary control (within limits) does not affect the probability of retardation or borderline retardation. Regression analysis supported the critical period hypothesis rather than the maximum concentration theory. Exposure to serum phenylalanine of 23--27 mg./dl. corresponds to 50 per cent probability retardation. The clinical epidemiologic approach offers an alternative methodology for designing collaborative studies.

摘要

对俄亥俄州四个诊断治疗中心的39例高苯丙氨酸血症患者进行了回顾性队列分析。这些中心均未纳入苯丙酮尿症协作研究。流行病学分析表明，早期治疗是有效的，并且（在一定范围内）饮食控制程度不会影响智力发育迟缓或边缘智力发育迟缓的概率。回归分析支持关键期假说而非最大浓度理论。血清苯丙氨酸浓度为23 - 27mg./dl时，智力发育迟缓的概率为50%。临床流行病学方法为设计协作研究提供了另一种方法。