Problems of phenylketonuria.
出版信息
Br Med J. 1971 Dec 18;4(5789):695-6.
Abstract
摘要
相似文献
1
Problems of phenylketonuria.苯丙酮尿症的问题。
Br Med J. 1971 Dec 18;4(5789):695-6.
2
[The determination of ortho-hydroxyphenylacetic acid in the urine and its significance in the diagnosis of phenylketonuria].[尿中邻羟基苯乙酸的测定及其在苯丙酮尿症诊断中的意义]
J Pharm Belg. 1967 Jul-Aug;22(7):243-56.
3
Aromatic acids in urine of healthy infants, persistent hyperphenylalaninemia, and phenylketonuria, before and after phenylalanine load.苯丙氨酸负荷前后健康婴儿、持续性高苯丙氨酸血症和苯丙酮尿症尿液中的芳香酸。
Pediatr Res. 1974 Jul;8(7):704-9. doi: 10.1203/00006450-197407000-00003.
4
Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria.尿中苯丙氨酸代谢产物的定量分析以检测苯丙酮尿症杂合子。
Humangenetik. 1974 Apr 24;22(1):85-8. doi: 10.1007/BF00338140.
5
[Phenylketonuria. Yesterday, today and tomorrow].
Arch Fr Pediatr. 1983;40 Suppl 1:207-13.
6
The place of large-scale screening in the prevention of hereditary diseases. Phenylketonuria.大规模筛查在遗传性疾病预防中的作用。苯丙酮尿症。
Isr J Med Sci. 1973 Sep-Oct;9(9):1319-22.
7
[Diet in phenylketonuria].[苯丙酮尿症的饮食]
Arch Fr Pediatr. 1969 Aug-Sep;26(7):791-807.
8
Aromatic acid excretion in classical phenylketonuria and hyperphenylalaninemic variants.经典型苯丙酮尿症和高苯丙氨酸血症变异型中的芳香酸排泄
Helv Paediatr Acta. 1974 Nov;29(5):489-98.
9
[The traps of Guthrie's test].
Arch Fr Pediatr. 1976 Nov;33(G):915-20.
10
Quantitative studies on the urinary excretion of unconjugated aromatic acids in phenylketonuria.苯丙酮尿症中未结合芳香酸尿排泄的定量研究。
Clin Chim Acta. 1974 Sep 30;55(3):281-94. doi: 10.1016/0009-8981(74)90002-3.
本文引用的文献
1
Transient tyrosinemia of the newborn: dietary and clinical aspects.新生儿暂时性酪氨酸血症：饮食与临床方面
Pediatrics. 1967 Mar;39(3):378-84.
2
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.
3
Phenylketonuria. Mass screening of newborns in Ireland.苯丙酮尿症。爱尔兰新生儿群体筛查。
Arch Dis Child. 1968 Apr;43(228):141-4. doi: 10.1136/adc.43.228.141.
4
Persistent mild hyperphenylalaninemia in the untreated state. A prospective study.
N Engl J Med. 1971 Aug 19;285(8):424-9. doi: 10.1056/NEJM197108192850802.
5
Atypical phenylketonuria. An approach to diagnosis and management.非典型苯丙酮尿症。诊断与管理方法。
Arch Dis Child. 1970 Aug;45(242):561-5. doi: 10.1136/adc.45.242.561.
6
Phenylketonuria: mental development, behavior, and termination of low phenylalanine diet.苯丙酮尿症：智力发育、行为及低苯丙氨酸饮食的终止
J Pediatr. 1968 May;72(5):646-55. doi: 10.1016/s0022-3476(68)80007-1.
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