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Titolo Data di pubblicazione Autore(i) File
Screening for Malignant Phenylketonuria 1987 Ponzone A; Guardamagna O; Ferraris S; Bracco G; Cotton R
Attempt of Indirect Screening of Tetrahydrobiopterin Deficiencies. 1987 Ferraris S; Guardamagna O; Bracco G; Ponzone A.
Two mutations of Dihydropteridine Reductase Deficiency. 1988 Ponzone A; Guardamagna O; Ferraris S; Bracco G; Niederwieser A; Cotton R.
Differential entrance of tetrahydrobiopterin into the brain of patients with 6-pyruvoil tetrahydropterin synthase deficiency 1989 Ponzone A; Biasetti S; Ferraris S; Guardamagna O; Curtius H-CH; Kierat L; Blau N.
Prenatal-Diagnosis of Atypical Phenylketonuria 1989 Blau N; Niederwieser A; Curtius H; Kierat L; Leimbacher W; Matasovic A; Guardamagna O; et al
Prenatal diagnosis of atypical phenylketonuria 1989 Blau N; Niederwieser A; Curtius HC; Kierat L; Leimbacher W; Matasovic A; Binkert F; Lehmann H; Leupold D; Guardamagna O; Ponzone A; Schmidt H; Coskun T; Ozalp I; Giugliani R; Biasucci G; Giovannini M
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.
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.
Monitoring treatment in tetrahydrobiopterin deficiency 1992 Spada M; Parrella T; Ponzone R; Ferraris S; Guardamagna O; Ponzone A; Blau N.
Differential-Diagnosis of Hyperphenylalaninemia by a Combined Phenylalanine-Tetrahydrobiopterin Loading Test 1993 Ponzone A; Guardamagna O; Spada M; Ferraris S; Ponzone R; Kierat L; Blau N
Hyperphenylalaninemia and Pterin Metabolism in Serum and Erythrocytes 1993 Ponzone A; Guardamagna O; Spada M; Ponzone R; Sartore M; Kierat L; et al
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.
Prenatal diagnosis in primary hyperphenylalaninemias. 1993 Ponzone A; Dianzani I; Spada M; De Sanctis L; Guardamagna O; Viora E; Ponzone R; Kierat L; Leimbacher W; Matasovic A; Blau N
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.
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels. 1994 Iolascon A; Parrella T; Perrotta S; Guardamagna O; Coates PM; Sartore M; Surrey S; Fortina P.
Mostrati risultati da 21 a 40 di 145
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