Associated Papers
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y et al.
Science (new York, N.y.), 2021
[Phenotypic and molecular characterization of a Colombian family with phenylketonuria].
Gélvez N et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2016
Dictyostelium discoideum Ax2 as an Assay System for Screening of Pharmacological Chaperones for Phenylketonuria Mutations.
Kim YM et al.
Journal of Microbiology and Biotechnology, 2015
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.
Shi Z et al.
Proteins, 2012
The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.
Elsas LJ et al.
Molecular Genetics and Metabolism, 2011
Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene.
De Lucca M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2001
Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.
Gámez A et al.
The Journal of Biological Chemistry, 2000
Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.
De Lucca M et al.
Human Mutation, 1998
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993
[Clinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria].
Mahfoud A et al.
Revista De Neurologia, 0
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