Literature DB >> 8739972

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

L R Desviat1, B Pérez, M Ugarte.   

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Year:  1996        PMID： 8739972     DOI： 10.1007/bf01799436

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


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  8 in total

1.  Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia.

Authors:  B Pérez; L R Desviat; M Ugarte
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

2.  Phenotype distribution in the Spanish phenylketonuria population and related genotypes.

Authors:  M Martínez-Pardo; A R Colmenares; M J García; B Pérez; L R Desviat; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

Authors:  P Guldberg; K F Henriksen; B Thöny; N Blau; F Güttler
Journal:  Genomics       Date:  1994-05-15       Impact factor: 5.736

4.  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

5.  Molecular basis for nonphenylketonuria hyperphenylalaninemia.

Authors:  E Economou-Petersen; K F Henriksen; P Guldberg; F Güttler
Journal:  Genomics       Date:  1992-09       Impact factor: 5.736

6.  Application of natural and amplification created restriction sites for the diagnosis of PKU mutations.

Authors:  H G Eiken; E Odland; H Boman; L Skjelkvåle; L F Engebretsen; J Apold
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

7.  Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Authors:  S Avigad; S Kleiman; M Weinstein; B E Cohen; G Schwartz; S L Woo; Y Shiloh
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

8.  Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Authors:  P Guldberg; V Romano; N Ceratto; P Bosco; M Ciuna; A Indelicato; F Mollica; C Meli; M Giovannini; E Riva
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150
  8 in total
  4 in total

1.  Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Authors:  I Rivera; P Leandro; U Lichter-Konecki; I Tavares de Almeida; M C Lechner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

2.  Molecular basis of mild hyperphenylalaninaemia in Poland.

Authors:  C Zekanowski; M Nowacka; B Cabalska; J Bal
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

3.  Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Authors:  Polina Gundorova; Anna A Stepanova; Irina A Kuznetsova; Sergey I Kutsev; Aleksander V Polyakov
Journal:  PLoS One       Date:  2019-01-22       Impact factor: 3.240

4.  A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

Authors:  P Guldberg; F Rey; J Zschocke; V Romano; B François; L Michiels; K Ullrich; G F Hoffmann; P Burgard; H Schmidt; C Meli; E Riva; I Dianzani; A Ponzone; J Rey; F Güttler
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  4 in total

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