Phenylketonuria: old disease, new approach to treatment.
作者信息
Levy H L
机构信息
Department of Medicine (Division of Genetics), Children's Hospital, Boston, MA 02115, USA.
出版信息
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1811-3. doi: 10.1073/pnas.96.5.1811.
Abstract
摘要
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本文引用的文献
1
Gargoylism (lipochondrodystrophy); a study of 10 cases, with emphasis on the formes frustes of the disease.黏多糖贮积症Ⅱ型（脂肪软骨营养不良）；10例研究，重点关注该疾病的顿挫型。
Arch Neurol Psychiatry. 1950 May;63(5):681-712.
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Phenylketonuria with a study of the effect upon it of glutamic acid.苯丙酮尿症以及谷氨酸对其影响的研究
Arch Dis Child. 1951 Dec;26(130):487-94. doi: 10.1136/adc.26.130.487.
3
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.
4
5
Influence of phenylalanine intake on phenylketonuria.苯丙氨酸摄入对苯丙酮尿症的影响。
Lancet. 1953 Oct 17;265(6790):812-3. doi: 10.1016/s0140-6736(53)90473-5.
6
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase.苯丙酮尿症治疗的一种不同方法：用重组苯丙氨酸解氨酶降解苯丙氨酸。
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2339-44. doi: 10.1073/pnas.96.5.2339.
7
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria.四聚体人苯丙氨酸羟化酶的结构及其对苯丙酮尿症的影响。
J Biol Chem. 1998 Jul 3;273(27):16962-7. doi: 10.1074/jbc.273.27.16962.
8
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.一项关于苯丙氨酸羟化酶缺乏症的欧洲多中心研究：105种突变的分类及基于基因型预测代谢表型的通用系统
Am J Hum Genet. 1998 Jul;63(1):71-9. doi: 10.1086/301920.
9
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.
10
Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials.苯丙酮尿症的治疗产品和方法：在美国临床试验中，改善的适口性和灵活性证明了安全性、有效性和可接受性。
J Inherit Metab Dis. 1997 Aug;20(4):486-98. doi: 10.1023/a:1005337126669.
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