Undiagnosed phenylketonuria in adult women: a hidden public health problem.
作者信息
Hanley W B, Clarke J T, Schoonheyt W E
机构信息
Department of Pediatrics, Hospital for Sick Children, Toronto, Ont.
出版信息
CMAJ. 1990 Sep 15;143(6):513-6.
Abstract
摘要
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Undiagnosed phenylketonuria in adult women: a hidden public health problem.成年女性未诊断出的苯丙酮尿症：一个隐藏的公共卫生问题。
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引用本文的文献
1
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.苯丙酮尿症：健康纯合子后代中R261Q突变和母体苯丙酮尿症的可变表型结果。
J Med Genet. 1993 Apr;30(4):284-8. doi: 10.1136/jmg.30.4.284.
本文引用的文献
1
Variations in intelligence in phenylktonuria.苯丙酮尿症患者智力的差异。
Can Med Assoc J. 1962 Apr 21;86(16):736-43.
2
An evaluation of the treatment of phenylketonuria with diets low in phenylalanine.低苯丙氨酸饮食治疗苯丙酮尿症的评估
Pediatrics. 1960 Jul;26:1-11.
3
Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.母体苯丙酮尿症：孕期虽采用低苯丙氨酸饮食但仍产下异常婴儿。
Arch Dis Child. 1980 Aug;55(8):634-7. doi: 10.1136/adc.55.8.634.
4
Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.母体苯丙酮尿症和高苯丙氨酸血症。未经治疗和经治疗妊娠结局的国际调查。
N Engl J Med. 1980 Nov 20;303(21):1202-8. doi: 10.1056/NEJM198011203032104.
5
Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.高苯丙氨酸血症：儿童期各种类型苯丙氨酸羟化酶缺乏症的诊断与分类
Acta Paediatr Scand Suppl. 1980;280:1-80.
6
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus.未经治疗的母体苯丙酮尿症和高苯丙氨酸血症对胎儿的影响。
N Engl J Med. 1983 Nov 24;309(21):1269-74. doi: 10.1056/NEJM198311243092101.
7
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？
J Pediatr. 1966 Aug;69(2):334-8. doi: 10.1016/s0022-3476(66)80350-5.
8
Causes for high phenylalanine with normal tyrosine in newborn screening programs.新生儿筛查项目中苯丙氨酸水平高而酪氨酸水平正常的原因。
Am J Dis Child. 1969 Jan;117(1):54-65. doi: 10.1001/archpedi.1969.02100030056006.
9
The natural history of untreated phenylketonuria.
Med J Aust. 1971 Feb 13;1(7):378-83. doi: 10.5694/j.1326-5377.1971.tb87588.x.
10
Screening the "normal" population in Massachusetts for phenylketonuria.在马萨诸塞州对“正常”人群进行苯丙酮尿症筛查。
N Engl J Med. 1970 Jun 25;282(26):1455-8. doi: 10.1056/NEJM197006252822604.
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