Literature DB >> 12174822

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

Robert Steinfeld1, Alfried Kohlschütter, Johannes Zschocke, Martin Lindner, Kurt Ullrich, Zoltan Lukacs.   

Abstract

The effect of tetrahydrobiopterin (BH(4)) administration was studied in three infants with BH(4) responsive phenylalanine hydroxylase (PAH) deficiency by correlating different BH(4) doses with plasma phenylalanine levels under defined protein intake.

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Year:  2002        PMID： 12174822     DOI： 10.1007/s00431-002-0966-0

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  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

Review 2.  A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria.

Authors:  H Erlandsen; R C Stevens
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

3.  Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Authors:  L J Spaapen; J A Bakker; C Velter; W Loots; M E Rubio-Gozalbo; P P Forget; L Dorland; T J De Koning; B T Poll-The; H K Ploos van Amstel; J Bekhof; N Blau; M Duran; M E Rubio-Gonzalbo
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

4.  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

5.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Authors:  P Guldberg; F Rey; J Zschocke; V Romano; B François; L Michiels; K Ullrich; G F Hoffmann; P Burgard; H Schmidt; C Meli; E Riva; I Dianzani; A Ponzone; J Rey; F Güttler
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  6 in total
  4 in total

Review 1.  Sapropterin dihydrochloride for phenylketonuria.

Authors:  Usha Rani Somaraju; Marcus Merrin
Journal:  Cochrane Database Syst Rev       Date:  2015-03-27

Review 2.  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

3.  Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias.

Authors:  U Langenbeck
Journal:  J Inherit Metab Dis       Date:  2008-01-22       Impact factor: 4.982

4.  Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.

Authors:  R Steinfeld; A Kohlschütter; K Ullrich; Z Lukacs
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  4 in total

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