Sfoglia per Autore
Hetereogeneity in tetrabiopterindeficiency: combined phenylalanine –tetrahydrobiopterin test.
1990-01-01 94. Ponzone A; Guardamagna O; Ferraris S; Ferrero GB; Blau N; Curtius H-CH; Kierat L; Cotton RGH.
Screening and treatment of tetrahydrobiopterin deficiency.
1990-01-01 Ponzone A; Ferrero GB; Guardamagna O; Ferraris S; Curtius H-CH; Blau N
Unusual case of atypic PKU: peripheral or central formo f PPH4S deficiency?
1990-01-01 Blau N; Endres W; Guardamagna O; Ferrero GB; Ferraris S; Ponzone A.
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.
1990-01-01 Ponzone A; Blau N; Guardamagna O; Ferrero GB; Dianzani I; Endres W.
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
1990-01-01 Dianzani I; Devoto M; Camaschella C; Saglio G; Ferrero GB; Cerone R; Romano C; Romeo G; Giovannini M; Riva E; et al.
Haplotype distribution and molecular defects of PKU in Italy.
1990-01-01 Dianzani I; Camaschella C; Saglio G; Ferrero GB; Romeo G; Devoto M; Romano C; Cerone R; Giovannini M; Riva E; et al.
Selected screening of tetrahydrobiopterin deficiency with the combined phelilalanine-tetrahydrobiopterin loading test.
1991-01-01 Guardamagna O; Ferrero GB; Spada M; Ponzone R; Soldi A; Bonetti G; Ponzone A.
Tetrahydrobiopterin loading test in hyperphenylalaninemia.
1991-01-01 Ponzone A; Guardamagna O; Ferraris S; Ferrero GB; Dianzani I; Cotton RG.
Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte
1992-01-01 Ponzone A; Dianzani I; Ferrero GB; Spada M; Parrella T; De Sanctis L; Ferraris S; Guardamagna O; Fiorucci GC; Dotti G; Bonetti G; Pagliardini S.
Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana
1992-01-01 Dianzani I; De Sanctis L; Alliaudi C; Ferrero GB; Ponzone A; Camaschella C.
Molecular basis of phenylketonuria in Italy
1992-01-01 Dianzani I; Camaschella C; Ferrero GB; De Sanctis L; Ponzone A; Cotton RGH.
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
1993-01-01 Ponzone A; Guardamagna O; Dianzani I; Ponzone R; Ferrero GB; Spada M; Cotton RG.
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.
1993-01-01 WAPENAAR MC; BASSI MT; SCHAEFER L; GRILLO A; FERRERO G; CHINAULT AC; BALLABIO A; ZOGHBI HY
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
1993-01-01 Dianzani I; Camaschella C; Saglio G; Ferrero GB; Ramus S; Ponzone A; Cotton RG.
A high resolution deletion map of human chromosome Xp22.
1993-01-01 Schaefer L; Ferrero GB; Grillo A; Bassi MT; Roth EJ; Wapenaar MC; van Ommen GJ; Mohandas TK; Rocchi M; Zoghbi HY; Ballabio A.
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm
1993-01-01 Lee WC; Ferrero GB; Chinault AC; Yen PH; Ballabio A.
Experience with the Combined Phenylalanine-Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia.
1994-01-01 Ponzone A; Spada M; Ferrero G; Ferraris S; Guardamagna O; Burlina A; et al.
Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.
1994-01-01 Yen PH; Ferrero GB; Chinault AC; Mohandas T; Ballabio A.
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.
1994-01-01 Lindsay EA; Grillo A; Ferrero GB; Roth EJ; Magenis E; Grompe M; Hultén M; Gould C; Baldini A; Zoghbi HY; et al.
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.
1994-01-01 van Slegtenhorst MA; Bassi MT; Borsani G; Wapenaar MC; Ferrero GB; de Conciliis L; Rugarli EI; Grillo A; Franco B; Zoghbi HY; Ballabio A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Hetereogeneity in tetrabiopterindeficiency: combined phenylalanine –tetrahydrobiopterin test. | 1990 | 94. Ponzone A; Guardamagna O; Ferraris S; Ferrero GB; Blau N; Curtius H-CH; Kierat L; Cotton RGH. | |
| Screening and treatment of tetrahydrobiopterin deficiency. | 1990 | Ponzone A; Ferrero GB; Guardamagna O; Ferraris S; Curtius H-CH; Blau N | |
| Unusual case of atypic PKU: peripheral or central formo f PPH4S deficiency? | 1990 | Blau N; Endres W; Guardamagna O; Ferrero GB; Ferraris S; Ponzone A. | |
| Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. | 1990 | Ponzone A; Blau N; Guardamagna O; Ferrero GB; Dianzani I; Endres W. | |
| Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy. | 1990 | Dianzani I; Devoto M; Camaschella C; Saglio G; Ferrero GB; Cerone R; Romano C; Romeo G; Giovannini M; Riva E; et al. | |
| Haplotype distribution and molecular defects of PKU in Italy. | 1990 | Dianzani I; Camaschella C; Saglio G; Ferrero GB; Romeo G; Devoto M; Romano C; Cerone R; Giovannini M; Riva E; et al. | |
| Selected screening of tetrahydrobiopterin deficiency with the combined phelilalanine-tetrahydrobiopterin loading test. | 1991 | Guardamagna O; Ferrero GB; Spada M; Ponzone R; Soldi A; Bonetti G; Ponzone A. | |
| Tetrahydrobiopterin loading test in hyperphenylalaninemia. | 1991 | Ponzone A; Guardamagna O; Ferraris S; Ferrero GB; Dianzani I; Cotton RG. | |
| Screening neonatale di massa per malattie metaboliche: 10 anni di attività nella regione Piemonte | 1992 | Ponzone A; Dianzani I; Ferrero GB; Spada M; Parrella T; De Sanctis L; Ferraris S; Guardamagna O; Fiorucci GC; Dotti G; Bonetti G; Pagliardini S. | |
| Le basi molecolari delle iperfenilalaninemie ereditarie nella popolazione italiana | 1992 | Dianzani I; De Sanctis L; Alliaudi C; Ferrero GB; Ponzone A; Camaschella C. | |
| Molecular basis of phenylketonuria in Italy | 1992 | Dianzani I; Camaschella C; Ferrero GB; De Sanctis L; Ponzone A; Cotton RGH. | |
| Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. | 1993 | Ponzone A; Guardamagna O; Dianzani I; Ponzone R; Ferrero GB; Spada M; Cotton RG. | |
| The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. | 1993 | WAPENAAR MC; BASSI MT; SCHAEFER L; GRILLO A; FERRERO G; CHINAULT AC; BALLABIO A; ZOGHBI HY | |
| Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. | 1993 | Dianzani I; Camaschella C; Saglio G; Ferrero GB; Ramus S; Ponzone A; Cotton RG. | |
| A high resolution deletion map of human chromosome Xp22. | 1993 | Schaefer L; Ferrero GB; Grillo A; Bassi MT; Roth EJ; Wapenaar MC; van Ommen GJ; Mohandas TK; Rocchi M; Zoghbi HY; Ballabio A. | |
| A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm | 1993 | Lee WC; Ferrero GB; Chinault AC; Yen PH; Ballabio A. | |
| Experience with the Combined Phenylalanine-Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia. | 1994 | Ponzone A; Spada M; Ferrero G; Ferraris S; Guardamagna O; Burlina A; et al. | |
| Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. | 1994 | Yen PH; Ferrero GB; Chinault AC; Mohandas T; Ballabio A. | |
| Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. | 1994 | Lindsay EA; Grillo A; Ferrero GB; Roth EJ; Magenis E; Grompe M; Hultén M; Gould C; Baldini A; Zoghbi HY; et al. | |
| A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. | 1994 | van Slegtenhorst MA; Bassi MT; Borsani G; Wapenaar MC; Ferrero GB; de Conciliis L; Rugarli EI; Grillo A; Franco B; Zoghbi HY; Ballabio A. |
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