PORTA, Francesco
PORTA, Francesco
SCIENZE CLINICHE E BIOLOGICHE
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up].
2006-01-01 Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA
2006-01-01 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU.
2023-01-01 Rondanelli M; Porta F; Gasparri C; Barrile GC; Cavioni A; Mansueto F; Mazzola G; Patelli Z; Peroni G; Pirola M; Razza C; Tartara A; Perna S.
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
2025-01-01 Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
2013-01-01 Santarelli F;Cassanello M;Enea A;Poma F;D'Onofrio V;Guala G;Garrone G;Puccinelli P;Caruso U;Porta F;Spada M
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
2022-01-01 Kalantari S.; Brezzi B.; Bracciama V.; Barreca A.; Nozza P.; Vaisitti T.; Amoroso A.; Deaglio S.; Manganaro M.; Porta F.; Spada M.
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
2025-01-01 Bruschi, Fabio; Vaia, Ylenia; Antonello, Clara E.; Spada, Marco; Porta, Francesco; Marinaccio, Cristina; Carducci, Claudia; Opladen, Thomas; Sartorelli, Jacopo; Zibordi, Federica Maria; Ghezzi, Daniele; Nicita, Francesco; Tonduti, Davide
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
2018-01-01 Calvo PL; Spada M; Rabbone I; Pinon M; Porta F; Cisarò F; Reggiani S; Cefalù AB; Sturiale L; Garozzo D; Lefeber DJ; Jaeken J
Arginase 1 deficiency: a treatable form of spastic paraplegia
2025-01-01 Burlina, Alessandro; Ardissone, Anna; Battini, Roberta; Burlina, Alberto; Gasperini, Serena; Pession, Andrea; Porta, Francesco; Vici, Carlo Dionisi
Bed-sharing is bad-sharing
2012-01-01 Porta F; Mussa A.
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound.
2007-01-01 Mussa, Alessandro; Porta, Francesco; Gianoglio, Bruno; Gaido, Maurizio; Nicolosi, Mario Guido; De Terlizzi, Francesca; de Sanctis, Carlo; Coppo, Rosanna
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.
2010-01-01 Roato I; Porta F; Mussa A; D'Amico L; Fiore L; Garelli D; Spada M; Ferracini R.
Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure.
2010-01-01 Mussa A; Repici M; Fiore L; Tuli G; Porta F; Matarazzo P.
Breastfeeding effects on newborn screening.
2010-01-01 Porta F; Mussa A; Ponzone A.
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
2021-01-01 Siri B; Varesio C; Freri E; Darra F; Gana S; Mei D; Porta F; Fontana E; Galati G; Solazzi R; Niceta M; Veggiotti P; Alfei E.
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes
2025-01-01 Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis, Beat Thöny, Matthias Gautschi, Ralf A Husain, Daniela Karall, Karolina Orchel-Szastak, Francesco Porta, Dominique Roland, Barbara Siri, Carlo Dionisi-Vici, René Santer, Johannes Häberle
Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo
2025-01-01 Porta, Francesco
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
2019-01-01 Porta, Francesco; Chiesa, Nicoletta; Martinelli, Diego; Spada, Marco
Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease
2019-01-01 Porta, Francesco; Busso, Marta; Giorda, Sara; Spada, Marco
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
2020-01-01 Opladen T; López-Laso E; Cortès-Saladelafont E; Pearson TS; Sivri HS; Yildiz Y; Assmann B; Kurian MA; Leuzzi V; Heales S; Pope S; Porta F; García-Cazorla A; Honzík T; Pons R; Regal L; Goez H; Artuch R; Hoffmann GF; Horvath G; Thöny B; Scholl-Bürgi S; Burlina A; Verbeek MM; Mastrangelo M; Friedman J; Wassenberg T; Jeltsch K; Kulhánek J; Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD)
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| [Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. | 2006 | Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C | |
| A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA | 2006 | PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE | |
| A food pyramid for adult patients with phenylketonuria and a systematic review on the current evidences regarding the optimal dietary treatment of adult patients with PKU. | 2023 | Rondanelli M; Porta F; Gasparri C; Barrile GC; Cavioni A; Mansueto F; Mazzola G; Patelli Z; Peroni G; Pirola M; Razza C; Tartara A; Perna S. | |
| A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities | 2025 | Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca | |
| A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. | 2013 | Santarelli F;Cassanello M;Enea A;Poma F;D'Onofrio V;Guala G;Garrone G;Puccinelli P;Caruso U;Porta F;Spada M | |
| Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists | 2022 | Kalantari S.; Brezzi B.; Bracciama V.; Barreca A.; Nozza P.; Vaisitti T.; Amoroso A.; Deaglio S.; Manganaro M.; Porta F.; Spada M. | |
| Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency | 2025 | Bruschi, Fabio; Vaia, Ylenia; Antonello, Clara E.; Spada, Marco; Porta, Francesco; Marinaccio, Cristina; Carducci, Claudia; Opladen, Thomas; Sartorelli, Jacopo; Zibordi, Federica Maria; Ghezzi, Daniele; Nicita, Francesco; Tonduti, Davide | |
| An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia | 2018 | Calvo PL; Spada M; Rabbone I; Pinon M; Porta F; Cisarò F; Reggiani S; Cefalù AB; Sturiale L; Garozzo D; Lefeber DJ; Jaeken J | |
| Arginase 1 deficiency: a treatable form of spastic paraplegia | 2025 | Burlina, Alessandro; Ardissone, Anna; Battini, Roberta; Burlina, Alberto; Gasperini, Serena; Pession, Andrea; Porta, Francesco; Vici, Carlo Dionisi | |
| Bed-sharing is bad-sharing | 2012 | Porta F; Mussa A. | |
| Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. | 2007 | Mussa, Alessandro; Porta, Francesco; Gianoglio, Bruno; Gaido, Maurizio; Nicolosi, Mario Guido; De Terlizzi, Francesca; de Sanctis, Carlo; Coppo, Rosanna | |
| 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. | |
| Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. | 2010 | Mussa A; Repici M; Fiore L; Tuli G; Porta F; Matarazzo P. | |
| Breastfeeding effects on newborn screening. | 2010 | Porta F; Mussa A; Ponzone A. | |
| CDKL5 deficiency disorder in males: Five new variants and review of the literature. | 2021 | Siri B; Varesio C; Freri E; Darra F; Gana S; Mei D; Porta F; Fontana E; Galati G; Solazzi R; Niceta M; Veggiotti P; Alfei E. | |
| Characterization and treatment monitoring of ureagenesis disorders using stable isotopes | 2025 | Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis, Beat Thöny, Matthias Gautschi, Ralf A Husain, Daniela Karall, Karolina Orchel-Szastak, Francesco Porta, Dominique Roland, Barbara Siri, Carlo Dionisi-Vici, René Santer, Johannes Häberle | |
| Clinical Implications of Studying the Coupled Reaction of Phenylalanine Hydroxylase In Vitro and In Vivo | 2025 | Porta, Francesco | |
| Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature | 2019 | Porta, Francesco; Chiesa, Nicoletta; Martinelli, Diego; Spada, Marco | |
| Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease | 2019 | Porta, Francesco; Busso, Marta; Giorda, Sara; Spada, Marco | |
| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies | 2020 | Opladen T; López-Laso E; Cortès-Saladelafont E; Pearson TS; Sivri HS; Yildiz Y; Assmann B; Kurian MA; Leuzzi V; Heales S; Pope S; Porta F; García-Cazorla A; Honzík T; Pons R; Regal L; Goez H; Artuch R; Hoffmann GF; Horvath G; Thöny B; Scholl-Bürgi S; Burlina A; Verbeek MM; Mastrangelo M; Friedman J; Wassenberg T; Jeltsch K; Kulhánek J; Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD) |