Literature DB >> 2881074

Screening for malignant phenylketonuria.

A Ponzone, O Guardamagna, S Ferraris, G Bracco, R G Cotton.   

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Year:  1987        PMID： 2881074     DOI： 10.1016/s0140-6736(87)92127-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  5 in total

1.  Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Authors:  V Guzzetta; G Bonapace; I Dianzani; G Parenti; M Lecora; S Giannattasio; D Concolino; P Strisciuglio; G Sebastio; G Andria
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

2.  RFLPs of the phenylalanine hydroxylase gene in the Italian population.

Authors:  I Dianzani; L Farinasso; P Fortina; C Camaschella; R Ponzone; H H Dahl; R G Cotton; A Ponzone
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Authors:  A Ponzone; O Guardamagna; M Spada; S Ferraris; R Ponzone; L Kierat; N Blau
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

4.  Two mutations of dihydropteridine reductase deficiency.

Authors:  A Ponzone; O Guardamagna; S Ferraris; G Bracco; A Niederwieser; R G Cotton
Journal:  Arch Dis Child       Date:  1988-02       Impact factor: 3.791

5.  Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Authors:  I Dianzani; M Devoto; C Camaschella; G Saglio; G B Ferrero; R Cerone; C Romano; G Romeo; M Giovannini; E Riva
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132
  5 in total

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