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Titolo Data di pubblicazione Autore(i) File
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.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 1998 Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG.
Is there a relationship between extensive mongolian spots and inborn errors of metabolism? 1999 Silengo M; Battistoni G; Spada M.
Newborn feeding and screening for phenylketonuria. 1999 Ponzone A; Spada M; Ferrero GB; Ponzone R; Ferraris S.
Genotype-phenotype correlation in dihydropteridine reductase deficiency. 2000 de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I.
Hair anomalies as a sign of mitochondrial disease. 2003 Silengo M; Valenzise M; Spada M; Ferrero GB; Ferraris S; Dassi P; Jarre L.
Hair changes in congenital disorders of glycosylation (CDG type 1). 2003 Silengo M; Valenzise M; Pagliardini S; Spada M.
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. 2004 PEDUTO A; SPADA M; ALLUTO A; LA DOLCETTA M; A. PONZONE; SANTER R
High incidence of later-onset fabry disease revealed by newborn screening 2006 Spada M; Pagliardini S; Yasuda M; Tukel T; Thiagarajan G; Sakuraba H; Ponzone A; Desnick RJ.
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 2006 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
Treatment in tetrahydrobiopterin deficiency 2006 A. PONZONE; FERRARIS S; BAGLIERI S; SPADA M
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 2008 Ponzone A; Spada M; Roasio L; Porta F; Mussa A; Ferraris S
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. 2008 Porta F; Roato I; Mussa A; Repici M; Gorassini E; Spada M; Ferracini R.
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 2008 Porta F; Spada M; Lala R; Mussa A.
Clinical and genetic characterization of Chanarin-Dorfman syndrome. 2008 Bruno C; Bertini E; Di Rocco M; Cassandrini D; Ruffa G; De Toni T; Seri M; Spada M; Li Volti G; D'Amico A; Trucco F; Arca M; Casali C; Angelini C; Dimauro S; Minetti C.
Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. 2009 Kleinert J; Kotanko P; Spada M; Pagliardini S; Paschke E; Paul K; Voigtländer T; Wallner M; Kramar R; Stummvoll HK; Schwarz C; Horn S; Holzer H; Födinger M; Sunder-Plassmann G.
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 2009 Porta F; Mussa A; Concolino D; Spada M; Ponzone A.
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 2010 Roato I; Porta F; Mussa A; D'Amico L; Fiore L; Garelli D; Spada M; Ferracini R.
LIVER TRANSPLANT IN A PATIENT WITH LATHOSTEROLOSIS, A DEFECT OF THE CHOLESTEROL BIOSYNTESIS 2010 P.L. Calvo; R. Romagnoli; G. Corso; G. Parenti; M. Rossi; G. Andria; P. Ferrari; M. Baldi; A. Brunati; C. Barbera; M. Salizzoni; M. Spada
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency. 2010 Ponzone A; Porta F; Mussa A; Alluto A; Ferraris S; Spada M.
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