New Strategies for the Treatment of Phenylketonuria (PKU)

por Strisciuglio, Pietro, Concolino, Daniela
Publicado 2014

Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy

por Brunetti-Pierri, Nicola, Fecarotta, Simona, Staiano, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo
Publicado 2020

Gastrointestinal Symptoms of Patients with Fabry Disease

por Pensabene, Licia, Sestito, Simona, Nicoletti, Angela, Graziano, Francesca, Strisciuglio, Pietro, Concolino, Daniela
Publicado 2016

Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria

por Scala, Iris, Riccio, Maria Pia, Marino, Maria, Bravaccio, Carmela, Parenti, Giancarlo, Strisciuglio, Pietro
Publicado 2020

Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

por Donnarumma, Bernadette, Riccio, Maria Pia, Terrone, Gaetano, Palma, Melania, Strisciuglio, Pietro, Scala, Iris
Publicado 2021

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

por Concolino, Daniela, Rapsomaniki, Maria, Disabella, Eliana, Sestito, Simona, Pascale, Maria G, Moricca, Maria T, Bonapace, Giuseppe, Arbustini, Elisea, Strisciuglio, Pietro
Publicado 2010

Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia

por Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela
Publicado 2023

Epigallocatechin-3-Gallate Plus Omega-3 Restores the Mitochondrial Complex I and F(0)F(1)-ATP Synthase Activities in PBMCs of Young Children with Down Syndrome: A Pilot Study of Sa...

por Scala, Iris, Valenti, Daniela, Scotto D’Aniello, Valentina, Marino, Maria, Riccio, Maria Pia, Bravaccio, Carmela, Vacca, Rosa Anna, Strisciuglio, Pietro
Publicado 2021

Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach

por Borrelli, Melissa, Corcione, Adele, Rongo, Roberto, Cantone, Elena, Scala, Iris, Bruzzese, Dario, Martina, Stefano, Strisciuglio, Pietro, Michelotti, Ambrosina, Santamaria, Francesca
Publicado 2022

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement

por Rossi, Alessandro, Simeoli, Chiara, Salerno, Mariacarolina, Ferrigno, Rosario, Della Casa, Roberto, Colao, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo, Pivonello, Rosario, Melis, Daniela
Publicado 2020

Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria

por Scala, Iris, Concolino, Daniela, Nastasi, Anna, Esposito, Giulia, Crisci, Daniela, Sestito, Simona, Ferraro, Stefania, Albano, Lucia, Ruoppolo, Margherita, Parenti, Giancarlo, Strisciuglio, Pietro
Publicado 2021

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

por Scala, Iris, Concolino, Daniela, Casa, Roberto Della, Nastasi, Anna, Ungaro, Carla, Paladino, Serena, Capaldo, Brunella, Ruoppolo, Margherita, Daniele, Aurora, Bonapace, Giuseppe, Strisciuglio, Pietro, Parenti, Giancarlo, Andria, Generoso
Publicado 2015

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

por Rossi, Alessandro, Miele, Erasmo, Fecarotta, Simona, Veiga-da-Cunha, Maria, Martinelli, Massimo, Mollica, Carmine, D’Armiento, Maria, Mozzillo, Enza, Strisciuglio, Pietro, Derks, Terry G. J., Staiano, Annamaria, Parenti, Giancarlo
Publicado 2021

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

por Gragnaniello, Vincenza, Deodato, Federica, Gasperini, Serena, Donati, Maria Alice, Canessa, Clementina, Fecarotta, Simona, Pascarella, Antonia, Spadaro, Giuseppe, Concolino, Daniela, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Fiumara, Agata, Casa, Roberto Della
Publicado 2022

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

por Rossi, Alessandro, Turturo, Mariagrazia, Albano, Lucia, Fecarotta, Simona, Barretta, Ferdinando, Crisci, Daniela, Gallo, Giovanna, Perfetto, Rosa, Uomo, Fabiana, Vallone, Fabiana, Villani, Guglielmo, Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Ruoppolo, Margherita
Publicado 2022

Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

por Di Rocco, Maja, Di Fonzo, Alessio, Barbato, Antonio, Cappellini, Maria Domenica, Carubbi, Francesca, Giona, Fiorina, Giuffrida, Gaetano, Linari, Silvia, Pession, Andrea, Quarta, Antonella, Scarpa, Maurizio, Spada, Marco, Strisciuglio, Pietro, Andria, Generoso
Publicado 2020

Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity

por Ferrara, Ursula Pia, Tortora, Cristina, Rosano, Carmen, Assunto, Antonia, Rossi, Alessandro, Pagano, Stefano, Falco, Mariateresa, Simeoli, Chiara, Ferrigno, Rosario, D’Amico, Alessandra, Di Salvio, Dario, Cangemi, Giuliana, Pivonello, Rosario, Strisciuglio, Pietro, Melis, Daniela
Publicado 2022

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

por Assunto, Antonia, Ferrara, Ursula, De Luca, Alessandro, Pivonello, Claudia, Lombardo, Lisa, Piscitelli, Annapina, Tortora, Cristina, Pinna, Valentina, Daniele, Paola, Pivonello, Rosario, Russo, Maria Giovanna, Limongelli, Giuseppe, Colao, Annamaria, Tartaglia, Marco, Strisciuglio, Pietro, Melis, Daniela
Publicado 2019

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

por Fischetto, Rita, Palladino, Valentina, Mancardi, Maria M., Giacomini, Thea, Palladino, Stefano, Gaeta, Alberto, Di Rocco, Maja, Zampini, Lucia, Lassandro, Giuseppe, Favia, Vito, Tripaldi, Maria E., Strisciuglio, Pietro, Romano, Alfonso, Severino, Mariasavina, Morrone, Amelia, Giordano, Paola
Publicado 2020

Novelty in hypertension in children and adolescents: focus on hypertension during the first year of life, use and interpretation of ambulatory blood pressure monitoring, role of ph...

por Strambi, Mirella, Giussani, Marco, Ambruzzi, Maria Amalia, Brambilla, Paolo, Corrado, Ciro, Giordano, Ugo, Maffeis, Claudio, Maringhin, Silvio, Matteucci, Maria Chiara, Menghetti, Ettore, Salice, Patrizia, Schena, Federico, Strisciuglio, Pietro, Valerio, Giuliana, Viazzi, Francesca, Virdis, Raffaele, Genovesi, Simonetta
Publicado 2016