Advances and challenges in phenylketonuria

被引：10

作者：

Harding, Cary O. ^{[1
,2
]}

Blau, Nenad ^{[3
,4
]}

机构：

[1] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[2] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA

[3] Univ Childrens Hosp, Div Clin Chem & Biochem, Zurich, Switzerland

[4] Zurich Ctr Integrat Human Physiol ZIHP, Zurich, Switzerland

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷 / 06期

关键词：

PHENYLALANINE-HYDROXYLASE DEFICIENCY; MURINE PHENYLKETONURIA; MOUSE MODEL; AMMONIA-LYASE; GENE-TRANSFER; TETRAHYDROBIOPTERIN; MUTATIONS; THERAPY; HYPERPHENYLALANINEMIA; RESPONSIVENESS;

D O I：

10.1007/s10545-010-9247-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：645 / 648

页数：4

共 29 条

[1] Summary of findings from the United States Collaborative Study of children treated for phenylketonuria [J].

Azen, C ;

Koch, R ;

Friedman, E ;

Wenz, E ;

Fishler, K .

EUROPEAN JOURNAL OF PEDIATRICS, 1996, 155 :S29-S32

[2] The metabolic and molecular bases of tetrahydroblopterin-responsive phenylalanine hydroxylase deficiency [J].

Blau, N ;

Erlandsen, H .

MOLECULAR GENETICS AND METABOLISM, 2004, 82 (02) :101-111

[3]

Blau N., 2001, The Molecular and Metabolic Basis of Inherted Disease, P1725

[4] Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency [J].

Blau, Nenad .

EXPERT REVIEW OF ENDOCRINOLOGY & METABOLISM, 2010, 5 (04) :483-494

[5] Phenylketonuria [J].

Blau, Nenad ;

van Spronsen, Francjan J. ;

Levy, Harvey L. .

LANCET, 2010, 376 (9750) :1417-1427

[6] Optimizing the use of sapropterin (BH4) in the management of phenylketonuria [J].

Blau, Nenad ;

Belanger-Quintana, Amaya ;

Demirkol, Muebeccel ;

Feillet, Francois ;

Giovannini, Marcello ;

MacDonald, Anita ;

Trefz, Friedrich K. ;

van Spronsen, Francjan J. .

MOLECULAR GENETICS AND METABOLISM, 2009, 96 (04) :158-163

[7] Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer [J].

Ding, Z ;

Georgiev, P ;

Thöny, B .

GENE THERAPY, 2006, 13 (07) :587-593

[8] Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system [J].

Ding, Zhaobing ;

Harding, Cary O. ;

Rebuffat, Alexandre ;

Elzaouk, Lina ;

Wolff, Jon A. ;

Thoeny, Beat .

MOLECULAR THERAPY, 2008, 16 (04) :673-681

[9]

FANG B, 1994, GENE THER, V1, P247

[10] Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria [J].

Fiege, Betina ;

Blau, Nenad .

JOURNAL OF PEDIATRICS, 2007, 150 (06) :627-630

← 1 2 3 →