Showing results (1-10 of 12) with videos related to
Sort By:
Pageof 2
Genomics|July 1, 1993
Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresisP Guldberg, K F Henriksen, F GüttlerGenomics|September 1, 1992
Molecular basis for nonphenylketonuria hyperphenylalaninemiaE Economou-Petersen, K F Henriksen, P Guldberg, et al.Journal of Medical Genetics|February 1, 1996
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counsellingP Guldberg, H L Levy, K F Henriksen, et al.Journal of Inherited Metabolic Disease|August 13, 1998
Aberrant phenylalanine metabolism in phenylketonuria heterozygotesP Guldberg, K F Henriksen, H C Lou, et al.European Journal of Human Genetics : EJHG|February 5, 1998
A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlementP Guldberg, J Zschocke, A Dagbjartsson, et al.European Journal of Pediatrics|July 1, 1995
In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutationsP Guldberg, I Mikkelsen, K F Henriksen, et al.Journal of Medical Genetics|December 1, 1995
Phenylketonuria in a low incidence population: molecular characterisation of mutations in FinlandP Guldberg, K F Henriksen, I Sipilä, et al.European Journal of Human Genetics : EJHG|April 21, 2001
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation patternJ B Nielsen, K F Henriksen, C Hansen, et al.Human Genetics|January 1, 1991
The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuriaJ Jaruzelska, K F Henriksen, F Güttler, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemiasP Guldberg, H L Levy, R Koch, et al.Pageof 2