Phenylketonuria: an update

被引：21

作者：

Cederbaum, S

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Mental Retardat Res Ctr, Los Angeles, CA 90024 USA

[2] Univ Calif Los Angeles, Dept Psychiat, Los Angeles, CA 90025 USA

[3] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90025 USA

[4] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90025 USA

来源：

CURRENT OPINION IN PEDIATRICS | 2002年 / 14卷 / 06期

关键词：

D O I：

10.1097/00008480-200212000-00010

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed. Recent papers exploring newer and less well-delineated areas of cofactor supplementation and genetic and epigenetic modification of the genotypic expression are presented. The excitement surrounding the continued exploration of the hyperphenylalaninemias is emphasized. (C) 2002 Lippincott Williams Wilkins, Inc.

引用

页码：702 / 706

页数：5

共 31 条

[1] Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia [J].