STRISCIUGLIO, PIETRO
STRISCIUGLIO, PIETRO
Dipartimento di Scienze mediche traslazionali
Molecular andbiochemical analysis of protective protein/cathepsin A mutations: correlationwith clinical severity in galactosialidosis
1996 Zhou, Xy; van der Spoel, A; Rottier, R; Hale, G; Willemsen, R; Berry, Gt; Strisciuglio, Pietro; Morrone, A; Zammarchi, E; Andria, Generoso; D'Azzo, A.
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
1996 Guzzetta, V; De Fabiani, E; Galli, G; Colombo, C; Corso, G; Lecora, M; Parenti, Giancarlo; Strisciuglio, Pietro; Andria, Generoso
Ultrasonographic detection ofarterial disease in treated homocystinuria
1989 Rubba, PAOLO OSVALDO FEDERICO; Faccenda, F; Strisciuglio, Pietro; Andria, Generoso
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.
1992 Ghezzi, M; Parenti, Giancarlo; de Franchis, R; Farina, Vincenzo; de Leva, F; Guarino, Alfredo; BERNI CANANI, Roberto; Strisciuglio, Pietro
Short fourth metacarpal in homocystinuria.
1985 Tamburrini, O; Bartolomeo De Iuri, A; Andria, Generoso; Strisciuglio, Pietro; DEL GIUDICE, Ennio
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype
2001 Camera, G; Baldi, M; Strisciuglio, Pietro; Concolino, D; Mastroiacovo, P; Baffico, M.
Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.
2008 Concolino, D; Muzzi, G; Pisaturo, L; Piccirillo, A; Di Natale, P; Strisciuglio, Pietro
Celiac disease: predictors of compliance with a gluten-free diet in adolescents and young adults.
2010 Errichiello, S; Esposito, O; Di Mase, R; Camarca, Me; Natale, C; Limongelli, Mg; Marano, C; Cuozzo, A; Strisciuglio, Pietro; Greco, Luigi
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.
1988 Di Donato, S; Garavaglia, B; Strisciuglio, Pietro; Borrone, C; Andria, Generoso
Evidence of polyglandular involvement in Niemann-Pick disease type B.
1987 Strisciuglio, Pietro; Di Maio, S; Parenti, G; Franzese, A; Lubrano, P; Mariano, A; Andria, G.
Dietary treatment of liver glycogenosis.
1991 Andria, G; Parenti, G; Strisciuglio, Pietro; Tinello, C.
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
1991 Ballabio, Andrea; Zollo, Massimo; Carrozzo, R; Caiulo, A; Zuffardi, O; Cascioli, Cf; Viggiano, D; Strisciuglio, Pietro
Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.
1996 Staiano, Annamaria; Salerno, Mariacarolina; Di Maio, S; Marsullo, G; Marino, A; Concolino, D; Strisciuglio, Pietro
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
1997 Guzzetta, V; Bonapace, G; Dianzani, I; Parenti, G; Lecora, M; Giannattasio, S; Concolino, D; Strisciuglio, Pietro; Sebastio, G; Andria, G.
Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
1998 Concolino, D; Cinti, R; Ferraro, L; Moricca, Mt; Strisciuglio, Pietro
Echo-Doppler abnormalities in mucopolysaccharide storage diseases
1992 Farina, V; de Leva, F; Caso, P; Scippa, L; Parenti, G; Strisciuglio, Pietro
Down syndrome and breastfeeding
2003 Pisacane, A; Toscano, E; Pirri, I; Continisio, P; Andria, G; Zoli, B; Strisciuglio, Pietro; Concolino, D; Piccione, M; Lo Giudice, C; Vicari, S.
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods.
1996 Santamaria, F; Parenti, G; Guidi, G; Rotondo, A; Grillo, G; Larocca, Mr; Celentano, L; Strisciuglio, Pietro; Sebastio, G; Andria, G.
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods
1996 Santamaria, F; Parenti, Giancarlo; Guidi, G; Rotondo, Antonio; Grillo, G; Larocca, Mr; Celentano, Luigi; Strisciuglio, Pietro; Sebastio, G; Andria, G.
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
2007 Concolino, D; Rossi, E; Strisciuglio, Pietro; Iembo, Ma; Giorda, R; Ciccone, R; Tenconi, R; Zuffardi, O.
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
Molecular andbiochemical analysis of protective protein/cathepsin A mutations: correlationwith clinical severity in galactosialidosis | 1.1 Articolo in rivista | 1996 | Zhou, Xy; van der Spoel, A; Rottier, R; Hale, G; Willemsen, R; Berry, Gt; Strisciuglio, Pietro; Morrone, A; Zammarchi, E; Andria, Generoso; D'Azzo, A. | |
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group. | 1.1 Articolo in rivista | 1996 | Guzzetta, V; De Fabiani, E; Galli, G; Colombo, C; Corso, G; Lecora, M; Parenti, Giancarlo; Strisciuglio, Pietro; Andria, Generoso | |
Ultrasonographic detection ofarterial disease in treated homocystinuria | 1.1 Articolo in rivista | 1989 | Rubba, PAOLO OSVALDO FEDERICO; Faccenda, F; Strisciuglio, Pietro; Andria, Generoso | |
Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases. | 1.1 Articolo in rivista | 1992 | Ghezzi, M; Parenti, Giancarlo; de Franchis, R; Farina, Vincenzo; de Leva, F; Guarino, Alfredo; BERNI CANANI, Roberto; Strisciuglio, Pietro | |
Short fourth metacarpal in homocystinuria. | 1.1 Articolo in rivista | 1985 | Tamburrini, O; Bartolomeo De Iuri, A; Andria, Generoso; Strisciuglio, Pietro; DEL GIUDICE, Ennio | |
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype | 1.1 Articolo in rivista | 2001 | Camera, G; Baldi, M; Strisciuglio, Pietro; Concolino, D; Mastroiacovo, P; Baffico, M. | |
Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases. | 1.1 Articolo in rivista | 2008 | Concolino, D; Muzzi, G; Pisaturo, L; Piccirillo, A; Di Natale, P; Strisciuglio, Pietro | |
Celiac disease: predictors of compliance with a gluten-free diet in adolescents and young adults. | 1.1 Articolo in rivista | 2010 | Errichiello, S; Esposito, O; Di Mase, R; Camarca, Me; Natale, C; Limongelli, Mg; Marano, C; Cuozzo, A; Strisciuglio, Pietro; Greco, Luigi | |
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. | 1.1 Articolo in rivista | 1988 | Di Donato, S; Garavaglia, B; Strisciuglio, Pietro; Borrone, C; Andria, Generoso | |
Evidence of polyglandular involvement in Niemann-Pick disease type B. | 1.1 Articolo in rivista | 1987 | Strisciuglio, Pietro; Di Maio, S; Parenti, G; Franzese, A; Lubrano, P; Mariano, A; Andria, G. | |
Dietary treatment of liver glycogenosis. | 1.1 Articolo in rivista | 1991 | Andria, G; Parenti, G; Strisciuglio, Pietro; Tinello, C. | |
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. | 1.1 Articolo in rivista | 1991 | Ballabio, Andrea; Zollo, Massimo; Carrozzo, R; Caiulo, A; Zuffardi, O; Cascioli, Cf; Viggiano, D; Strisciuglio, Pietro | |
Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome. | 1.1 Articolo in rivista | 1996 | Staiano, Annamaria; Salerno, Mariacarolina; Di Maio, S; Marsullo, G; Marino, A; Concolino, D; Strisciuglio, Pietro | |
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene. | 1.1 Articolo in rivista | 1997 | Guzzetta, V; Bonapace, G; Dianzani, I; Parenti, G; Lecora, M; Giannattasio, S; Concolino, D; Strisciuglio, Pietro; Sebastio, G; Andria, G. | |
Partial trisomy 1(q42-->qter): a new case with a mild phenotype. | 1.1 Articolo in rivista | 1998 | Concolino, D; Cinti, R; Ferraro, L; Moricca, Mt; Strisciuglio, Pietro | |
Echo-Doppler abnormalities in mucopolysaccharide storage diseases | 1.1 Articolo in rivista | 1992 | Farina, V; de Leva, F; Caso, P; Scippa, L; Parenti, G; Strisciuglio, Pietro | |
Down syndrome and breastfeeding | 1.1 Articolo in rivista | 2003 | Pisacane, A; Toscano, E; Pirri, I; Continisio, P; Andria, G; Zoli, B; Strisciuglio, Pietro; Concolino, D; Piccione, M; Lo Giudice, C; Vicari, S. | |
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods. | 1.1 Articolo in rivista | 1996 | Santamaria, F; Parenti, G; Guidi, G; Rotondo, A; Grillo, G; Larocca, Mr; Celentano, L; Strisciuglio, Pietro; Sebastio, G; Andria, G. | |
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods | 1.1 Articolo in rivista | 1996 | Santamaria, F; Parenti, Giancarlo; Guidi, G; Rotondo, Antonio; Grillo, G; Larocca, Mr; Celentano, Luigi; Strisciuglio, Pietro; Sebastio, G; Andria, G. | |
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. | 1.1 Articolo in rivista | 2007 | Concolino, D; Rossi, E; Strisciuglio, Pietro; Iembo, Ma; Giorda, R; Ciccone, R; Tenconi, R; Zuffardi, O. |