Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

por Parenti, Giancarlo
Publicado 2009

Cervical spondylolisthesis in mucopolysaccharidosis type II

por Rossi, Alessandro, Parenti, Giancarlo
Publicado 2022

New treatments for the mucopolysaccharidoses: from pathophysiology to therapy

por Fecarotta, Simona, Gasperini, Serena, Parenti, Giancarlo
Publicado 2018

The rapidly evolving view of lysosomal storage diseases

por Parenti, Giancarlo, Medina, Diego L, Ballabio, Andrea
Publicado 2021

S1.2 The pediatrician and the early onset Pompe disease

por Fecarotta, Simona, Parenti, Giancarlo, Ascione, Serena, Montefusco, Giuseppe, Andria, Generoso
Publicado 2011

Pathogenesis of Mucopolysaccharidoses, an Update

por Fecarotta, Simona, Tarallo, Antonietta, Damiano, Carla, Minopoli, Nadia, Parenti, Giancarlo
Publicado 2020

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

por Succoio, Mariangela, Sacchettini, Rosa, Rossi, Alessandro, Parenti, Giancarlo, Ruoppolo, Margherita
Publicado 2022

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

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

Respiratory manifestations in patients with inherited metabolic diseases

por Santamaria, Francesca, Montella, Silvia, Mirra, Virginia, De Stefano, Sara, Andria, Generoso, Parenti, Giancarlo
Publicado 2013

Precocious puberty in Turner Syndrome: report of a case and review of the literature

por Improda, Nicola, Rezzuto, Martina, Alfano, Sara, Parenti, Giancarlo, Vajro, Pietro, Pignata, Claudio, Salerno, Mariacarolina
Publicado 2012

S2.2 Enzyme replacement therapy in the infantile-onset Pompe disease

por Parenti, Giancarlo, Porto, Caterina, Acampora, Emma, Avolio, Valeria, Gagliardo, Cristina, Rosa, Margherita, Fecarotta, Simona, Andria, Generoso
Publicado 2011

Postbiotic Preparation of Lacticaseibacillus rhamnosus GG against Diarrhea and Oxidative Stress Induced by Spike Protein of SARS-CoV-2 in Human Enterocytes

por Poeta, Marco, Cioffi, Valentina, Tarallo, Antonietta, Damiano, Carla, Lo Vecchio, Andrea, Bruzzese, Eugenia, Parenti, Giancarlo, Guarino, Alfredo
Publicado 2023

A case of galactosemia misdiagnosed as cow’s milk intolerance

por Casa, Roberto Della, Ungaro, Carla, Acampora, Emma, Pignata, Claudio, Vajro, Pietro, Salerno, Mariacarolina, Santamaria, Francesca, Parenti, Giancarlo
Publicado 2012

Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity

por Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo
Publicado 2014

Therapeutic options in pediatric non alcoholic fatty liver disease: current status and future directions

por Vajro, Pietro, Lenta, Selvaggia, Pignata, Claudio, Salerno, Mariacarolina, D’Aniello, Roberta, De Micco, Ida, Paolella, Giulia, Parenti, Giancarlo
Publicado 2012

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

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

por Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo
Publicado 2009

Hypertransaminasemia and fatal lung disease: a case report

por Santamaria, Francesca, De Stefano, Sara, Montella, Silvia, Maglione, Marco, Della Casa, Roberto, Acampora, Emma, Pignata, Claudio, Salerno, Mariacarolina, Parenti, Giancarlo
Publicado 2013

Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

por Fecarotta, Simona, Ascione, Serena, Montefusco, Giuseppe, Della Casa, Roberto, Villari, Paola, Romano, Alfonso, Del Giudice, Ennio, Andria, Generoso, Parenti, Giancarlo
Publicado 2013