Clinical utility gene card for: Phenylketonuria.
作者信息
Zschocke Johannes, Haverkamp Thomas, Møller Lisbeth Birk
机构信息
Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
出版信息
Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.172. Epub 2011 Sep 14.
Abstract
摘要
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Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13.
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Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.基因型在四氢生物蝶呤反应性苯丙酮尿症中的意义。
J Inherit Metab Dis. 2009 Feb;32(1):22-6. doi: 10.1007/s10545-008-0940-8. Epub 2008 Oct 30.
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Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.大中性氨基酸治疗苯丙酮尿症的双盲安慰剂对照试验：对血苯丙氨酸的影响
J Inherit Metab Dis. 2007 Apr;30(2):153-8. doi: 10.1007/s10545-007-0556-4. Epub 2007 Feb 27.
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