Literature DB >> 7807955

Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

M Martínez-Pardo1, A R Colmenares, M J García, B Pérez, L R Desviat, M Ugarte.   

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Year:  1994        PMID： 7807955     DOI： 10.1007/bf00711832

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

Review 2.  Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Authors:  R C Eisensmith; S L Woo
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

3.  Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

Authors:  F Güttler; P Guldberg; K F Henriksen; I Mikkelsen; B Olsen; H Lou
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  3 in total
  2 in total

1.  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

2.  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
  2 in total

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