Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?
Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?
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DOI：
10.1111/j.1365-277x.2011.01215.x
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发表时间：
2012-04-01
影响因子：
3.3
通讯作者：
McKiernan, P.
中科院分区：
文献类型：
--
作者：
Daly, A.;Gokmen-Ozel, H.;McKiernan, P.
背景：1型酪氨酸血症（HT1）的治疗采用酪氨酸和苯丙氨酸限制饮食、不含苯丙氨酸和酪氨酸的氨基酸和硝西酮（NTBC）。治疗指南建议血浆酪氨酸在200-400 μ m之间，苯丙氨酸至少在100 - 30 μ m之间。关于HT1患者血浆酪氨酸或苯丙氨酸的日变化信息很少。低血浆苯丙氨酸
Background: Tyrosinaemia type 1 (HT1) is treated with a tyrosine and phenylalanine-restricted diet, amino acids free of phenylalanine and tyrosine, and nitisinone (NTBC). Treatment guidelines recommend plasma tyrosine between 200-400 mu m and phenylalanine at least >30 mu m. There is little information on the diurnal variation of plasma tyrosine or phenylalanine in HT1. Low plasma phenylalanine