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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
The Journal of Pediatrics ( IF 5.1 ) Pub Date : 2021-08-30 , DOI: 10.1016/j.jpeds.2021.08.070
Annemiek M J van Wegberg 1 , Friedrich Trefz 2 , Maria Gizewska 3 , Sibtain Ahmed 4 , Layachi Chabraoui 5 , Maha S Zaki 6 , François Maillot 7 , Francjan J van Spronsen 1 ,
Affiliation  

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.



中文翻译:

未确诊的苯丙酮尿​​症无处不在:一项国际调查的结果

许多国家没有新生儿筛查 (NBS) 计划,来自这些国家的移民有晚诊断苯丙酮尿症 (PKU) 的风险。在这项国际调查中,259 名晚期诊断 PKU 患者中有 52 名 (20%) 是移民,259 名患者中有 145 名 (55%) 出生在 NBS 之前或没有 NBS 的地方。

更新日期:2021-08-30
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