Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy-Reference-Cited by-同舟云学术

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

Published:2009-03-06 Issue:7 Volume:276 Page:2048-2059
ISSN:1742-464X
Container-title:FEBS Journal
language:en
Short-container-title:

Author:

Daniele Aurora,Scala Iris,Cardillo Giuseppe,Pennino Cinzia,Ungaro Carla,Sibilio Michelina,Parenti Giancarlo,Esposito Luciana,Zagari Adriana,Andria Generoso,Salvatore Francesco

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1742-4658.2009.06940.x/fullpdf

Reference43 articles.

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2. Phenylketonuria: dietary and therapeutic challenges;Giovannini;J Inherit Metab Dis,2007

3. The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency;Leuzzi;J Inherit Metab Dis,2006

4. Efﬁcacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study;Levy;Lancet,2007

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