Literature DB >> 11855940

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation.

Nenad Blau, Friedrich K Trefz.   

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Year:  2002        PMID： 11855940     DOI： 10.1006/mgme.2001.3294

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  5 in total

1.  Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Authors:  Christineh N Sarkissian; Alejandra Gamez; Patrick Scott; Jerome Dauvillier; Alejandro Dorenbaum; Charles R Scriver; Raymond C Stevens
Journal:  JIMD Rep       Date:  2011-12-06

2.  Large neutral amino acids in the treatment of phenylketonuria (PKU).

Authors:  R Matalon; K Michals-Matalon; G Bhatia; E Grechanina; P Novikov; J D McDonald; J Grady; S K Tyring; F Guttler
Journal:  J Inherit Metab Dis       Date:  2006-09-21       Impact factor: 4.982

3.  The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.

Authors:  V Leuzzi; C Carducci; C Carducci; F Chiarotti; C Artiola; T Giovanniello; I Antonozzi
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

4.  Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.

Authors:  Heidi Erlandsen; Angel L Pey; Alejandra Gámez; Belén Pérez; Lourdes R Desviat; Cristina Aguado; Richard Koch; Sankar Surendran; Stephen Tyring; Reuben Matalon; Charles R Scriver; Magdalena Ugarte; Aurora Martínez; Raymond C Stevens
Journal:  Proc Natl Acad Sci U S A       Date:  2004-11-19       Impact factor: 11.205

5.  Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.

Authors:  R Matalon; K Michals-Matalon; G Bhatia; A B Burlina; A P Burlina; C Braga; L Fiori; M Giovannini; E Grechanina; P Novikov; J Grady; S K Tyring; F Guttler
Journal:  J Inherit Metab Dis       Date:  2007-02-27       Impact factor: 4.750
  5 in total

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