Literature DB >> 21915151

Clinical utility gene card for: Phenylketonuria.

Johannes Zschocke1, Thomas Haverkamp, Lisbeth Birk Møller.   

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Year:  2011        PMID： 21915151      PMCID： PMC3260912          DOI： 10.1038/ejhg.2011.172

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  15 in total

1.  Challenges and pitfalls in the management of phenylketonuria.

Authors:  François Feillet; Francjan J van Spronsen; Anita MacDonald; Friedrich K Trefz; Mübeccel Demirkol; Marcello Giovannini; Amaya Bélanger-Quintana; Nenad Blau
Journal:  Pediatrics       Date:  2010-07-12       Impact factor: 7.124

Review 2.  Monogenic traits are not simple: lessons from phenylketonuria.

Authors:  C R Scriver; P J Waters
Journal:  Trends Genet       Date:  1999-07       Impact factor: 11.639

3.  Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.

Authors:  F Güttler; C Azen; P Guldberg; A Romstad; W B Hanley; H L Levy; R Matalon; B M Rouse; F Trefz; F de la Cruz; R Koch
Journal:  Pediatrics       Date:  1999-08       Impact factor: 7.124

4.  Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene.

Authors:  A G DiLella; S C Kwok; F D Ledley; J Marvit; S L Woo
Journal:  Biochemistry       Date:  1986-02-25       Impact factor: 3.162

5.  Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Authors:  F K Trefz; D Scheible; H Götz; G Frauendienst-Egger
Journal:  J Inherit Metab Dis       Date:  2008-10-30       Impact factor: 4.982

6.  Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

Authors:  Yong Wha Lee; Dong Hwan Lee; Nam Doo Kim; Seung Tae Lee; Jee Young Ahn; Tae Youn Choi; You Kyoung Lee; Sun Hee Kim; Jong Won Kim; Chang Seok Ki
Journal:  Exp Mol Med       Date:  2008-10-31       Impact factor: 8.718

7.  Dietary management practices in phenylketonuria across European centres.

Authors:  Kirsten Ahring; Amaya Bélanger-Quintana; Katharina Dokoupil; Hulya Gokmen Ozel; Anna Maria Lammardo; Anita MacDonald; Kristina Motzfeldt; Maria Nowacka; Martine Robert; Margreet van Rijn
Journal:  Clin Nutr       Date:  2009-04-10       Impact factor: 7.324

8.  Management of phenylketonuria in Europe: survey results from 19 countries.

Authors:  Nenad Blau; Amaya Bélanger-Quintana; Mübeccel Demirkol; François Feillet; Marcello Giovannini; Anita MacDonald; Friedrich K Trefz; Francjan van Spronsen
Journal:  Mol Genet Metab       Date:  2009-09-13       Impact factor: 4.797

9.  Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Authors:  Christa Aulehla-Scholz; Helmut Heilbronner
Journal:  Hum Mutat       Date:  2003-04       Impact factor: 4.878

10.  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
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  2 in total

1.  Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007-2015).

Authors:  Ali Abbaskhanian; Daniel Zamanfar; Parvaneh Afshar; Einollah Asadpoor; Hamed Rouhanizadeh; Ali Jafarnia; Mohammad Shokzadeh
Journal:  Int J Prev Med       Date:  2017-11-07

2.  A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree.

Authors:  Elaheh Alavinejad; Seyede Zahra Sajedi; Masoumeh Razipour; Mona Entezam; Neda Mohajer; Aria Setoodeh; Saeed Talebi; Mohammad Keramatipour
Journal:  Avicenna J Med Biotechnol       Date:  2017 Jul-Sep
  2 in total

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