Literature DB >> 8088845

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

P Guldberg1, K F Henriksen, B Thöny, N Blau, F Güttler.   

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Year:  1994        PMID： 8088845     DOI： 10.1006/geno.1994.1296

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  15 in total

1.  Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

Authors:  P Guldberg; H L Levy; W B Hanley; R Koch; R Matalon; B M Rouse; F Trefz; F de la Cruz; K F Henriksen; F Güttler
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

Authors:  L Hoang; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

4.  Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Authors:  Pia Pinholt Madsen; Maria Kibaek; Xavier Roca; Ravi Sachidanandam; Adrian R Krainer; Ernst Christensen; Robert D Steiner; K Michael Gibson; Thomas J Corydon; Inga Knudsen; Ronald J A Wanders; Jos P N Ruiter; Niels Gregersen; Brage Storstein Andresen
Journal:  Hum Genet       Date:  2005-11-30       Impact factor: 4.132

5.  Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.

Authors:  P Guldberg; K F Henriksen; H C Lou; F Güttler
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

Review 6.  The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

Authors:  F Güttler; P Guldberg
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

7.  In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

Authors:  P Guldberg; I Mikkelsen; K F Henriksen; H C Lou; F Güttler
Journal:  Eur J Pediatr       Date:  1995-07       Impact factor: 3.183

8.  PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Authors:  V Romano; P Guldberg; F Güttler; C Meli; F Mollica; L Pavone; M Giovannini; E Riva; G Biasucci; D Luotti; L Palillo; F Calí; N Ceratto; G Anello; P Bosco
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 9.  Dominant versus recessive: molecular mechanisms in metabolic disease.

Authors:  Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2008-10-21       Impact factor: 4.982

10.  Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

Authors:  J Zschocke; C A Graham; D J Carson; N C Nevin
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025
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