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Can untreated PKU patients escape from intellectual disability? A systematic review

Abstract Background Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disabili...

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محفوظ في:
المؤلفون الرئيسيون: Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
التنسيق: Artigo
اللغة:Inglês
منشور في: BMC 2018-08-01
سلاسل:Orphanet Journal of Rare Diseases
الموضوعات:
Phenylketonuria
Phenylalanine
Late-diagnosed
Untreated
Brain vulnerability
Intellectual disability
الوصول للمادة أونلاين:http://link.springer.com/article/10.1186/s13023-018-0890-7
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