Literature DB >> 12227464

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.

J Weglage1, M Grenzebach, A von Teeffelen-Heithoff, T Marquardt, R Feldmann, J Denecke, D Gödde, H G Koch.   

Abstract

In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).

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Year:  2002        PMID： 12227464     DOI： 10.1023/a:1016514727870

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  Successful treatment of phenylketonuria with tetrahydrobiopterin.

Authors:  F K Trefz; C Aulela-Scholz; N Blau
Journal:  Eur J Pediatr       Date:  2001-05       Impact factor: 3.183

2.  Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Authors:  M Lindner; D Haas; E Mayatepek; J Zschocke; P Burgard
Journal:  Mol Genet Metab       Date:  2001-05       Impact factor: 4.797

3.  Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Authors:  S Kure; D C Hou; T Ohura; H Iwamoto; S Suzuki; N Sugiyama; O Sakamoto; K Fujii; Y Matsubara; K Narisawa
Journal:  J Pediatr       Date:  1999-09       Impact factor: 4.406
  3 in total
  8 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

Review 4.  Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism.

Authors:  Ania C Muntau; Søren W Gersting
Journal:  J Inherit Metab Dis       Date:  2010-09-08       Impact factor: 4.982

5.  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

6.  Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.

Authors:  M Lindner; G Gramer; S F Garbade; P Burgard
Journal:  J Inherit Metab Dis       Date:  2009-06-10       Impact factor: 4.982

7.  Effect of BH(4) supplementation on phenylalanine tolerance.

Authors:  A Burlina; N Blau
Journal:  J Inherit Metab Dis       Date:  2008-12-09       Impact factor: 4.982

8.  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
  8 in total

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