New developments in the treatment of hyperammonemia: emerging use of carglumic acid

Por Daniotti, Marta, la Marca, Giancarlo, Fiorini, Patrizio, Filippi, Luca
Publicado em 2011

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential

Por la Marca, Giancarlo, Malvagia, Sabrina, Pasquini, Elisabetta, Cavicchi, Catia, Morrone, Amelia, Ciani, Federica, Funghini, Silvia, Villanelli, Fabio, Zammarchi, Enrico, Guerrini, Renzo
Publicado em 2011

Pharmacological modulation of blood-brain barrier increases permeability of doxorubicin into the rat brain

Por Sardi, Iacopo, la Marca, Giancarlo, Cardellicchio, Stefania, Giunti, Laura, Malvagia, Sabrina, Genitori, Lorenzo, Massimino, Maura, de Martino, Maurizio, Giovannini, Maria G
Publicado em 2013

3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Conc...

Por Popa, Florina Ion, Perlini, Silvia, Teofoli, Francesca, Degani, Daniela, Funghini, Silvia, La Marca, Giancarlo, Rinaldo, Piero, Vincenzi, Monica, Antoniazzi, Franco, Boner, Attilio, Camilot, Marta
Publicado em 2011

Bone status of children born from mothers with autoimmune diseases treated during pregnancy with prednisone and/or low molecular weight heparin

Por Pagnini, Ilaria, Simonini, Gabriele, Cavalli, Loredana, la Marca, Giancarlo, Iuliano, Annamaria, Brandi, Maria Luisa, Bellisai, Francesca, Frediani, Bruno, Galeazzi, Mauro, Cantarini, Luca, Cimaz, Rolando
Publicado no Pediatr Rheumatol Online J (2014)

Serum Levels of Acyl-Carnitines along the Continuum from Normal to Alzheimer's Dementia

Por Cristofano, Adriana, Sapere, Nadia, La Marca, Giancarlo, Angiolillo, Antonella, Vitale, Michela, Corbi, Graziamaria, Scapagnini, Giovanni, Intrieri, Mariano, Russo, Claudio, Corso, Gaetano, Di Costanzo, Alfonso
Publicado no PLoS One (2016)

A TRPA1 antagonist reverts oxaliplatin-induced neuropathic pain

Por Nativi, Cristina, Gualdani, Roberta, Dragoni, Elisa, Di Cesare Mannelli, Lorenzo, Sostegni, Silvia, Norcini, Martina, Gabrielli, Gabriele, la Marca, Giancarlo, Richichi, Barbara, Francesconi, Oscar, Moncelli, Maria Rosa, Ghelardini, Carla, Roelens, Stefano
Publicado em 2013

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

Por Catarzi, Serena, Caciotti, Anna, Thusberg, Janita, Tonin, Rodolfo, Malvagia, Sabrina, la Marca, Giancarlo, Pasquini, Elisabetta, Cavicchi, Catia, Ferri, Lorenzo, Donati, Maria A., Baronio, Federico, Guerrini, Renzo, Mooney, Sean D., Morrone, Amelia
Publicado em 2013

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

Por Cavicchi, Catia, Donati, Maria Alice, Parini, Rossella, Rigoldi, Miriam, Bernardi, Mauro, Orfei, Francesca, Gentiloni Silveri, Nicolò, Colasante, Aniello, Funghini, Silvia, Catarzi, Serena, Pasquini, Elisabetta, la Marca, Giancarlo, Mooney, Sean David, Guerrini, Renzo, Morrone, Amelia
Publicado no Orphanet J Rare Dis (2014)

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous...

Por Tonin, Rodolfo, Caciotti, Anna, Funghini, Silvia, Pasquini, Elisabetta, Mooney, Sean D., Cai, Binghuang, Proncopio, Elena, Donati, Maria Alice, Baronio, Federico, Bettocchi, Ilaria, Cassio, Alessandra, Biasucci, Giacomo, Bordugo, Andrea, la Marca, Giancarlo, Guerrini, Renzo, Morrone, Amelia
Publicado no BBA Clin (2016)

Proteinuria Impairs Podocyte Regeneration by Sequestering Retinoic Acid

Por Peired, Anna, Angelotti, Maria Lucia, Ronconi, Elisa, la Marca, Giancarlo, Mazzinghi, Benedetta, Sisti, Alessandro, Lombardi, Duccio, Giocaliere, Elisa, Della Bona, Marialuisa, Villanelli, Fabio, Parente, Eliana, Ballerini, Lara, Sagrinati, Costanza, Wanner, Nicola, Huber, Tobias B., Liapis, Helen, Lazzeri, Elena, Lasagni, Laura, Romagnani, Paola
Publicado em 2013

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Por Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Publicado no J Inherit Metab Dis (2016)

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI)

Por Filippi, Luca, Fiorini, Patrizio, Daniotti, Marta, Catarzi, Serena, Savelli, Sara, Fonda, Claudio, Bartalena, Laura, Boldrini, Antonio, Giampietri, Matteo, Scaramuzzo, Rosa, Papoff, Paola, Del Balzo, Francesca, Spalice, Alberto, la Marca, Giancarlo, Malvagia, Sabrina, Della Bona, Maria Luisa, Donzelli, Gianpaolo, Tinelli, Francesca, Cioni, Giovanni, Pisano, Tiziana, Falchi, Melania, Guerrini, Renzo
Publicado em 2012

Reticular dysgenesis–associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

Por Rissone, Alberto, Weinacht, Katja Gabriele, la Marca, Giancarlo, Bishop, Kevin, Giocaliere, Elisa, Jagadeesh, Jayashree, Felgentreff, Kerstin, Dobbs, Kerry, Al-Herz, Waleed, Jones, Marypat, Chandrasekharappa, Settara, Kirby, Martha, Wincovitch, Stephen, Simon, Karen Lyn, Itan, Yuval, DeVine, Alex, Schlaeger, Thorsten, Schambach, Axel, Sood, Raman, Notarangelo, Luigi D., Candotti, Fabio
Publicado no J Exp Med (2015)

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Por Parenti, Giancarlo, Fecarotta, Simona, la Marca, Giancarlo, Rossi, Barbara, Ascione, Serena, Donati, Maria Alice, Morandi, Lucia Ovidia, Ravaglia, Sabrina, Pichiecchio, Anna, Ombrone, Daniela, Sacchini, Michele, Pasanisi, Maria Barbara, De Filippi, Paola, Danesino, Cesare, Della Casa, Roberto, Romano, Alfonso, Mollica, Carmine, Rosa, Margherita, Agovino, Teresa, Nusco, Edoardo, Porto, Caterina, Andria, Generoso
Publicado no Mol Ther (2014)

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients

Por Sauer, Aisha V., Hernandez, Raisa Jofra, Fumagalli, Francesca, Bianchi, Veronica, Poliani, Pietro L., Dallatomasina, Chiara, Riboni, Elisa, Politi, Letterio S., Tabucchi, Antonella, Carlucci, Filippo, Casiraghi, Miriam, Carriglio, Nicola, Cominelli, Manuela, Forcellini, Carlo Alberto, Barzaghi, Federica, Ferrua, Francesca, Minicucci, Fabio, Medaglini, Stefania, Leocani, Letizia, la Marca, Giancarlo, Notarangelo, Lucia D., Azzari, Chiara, Comi, Giancarlo, Baldoli, Cristina, Canale, Sabrina, Sessa, Maria, D’Adamo, Patrizia, Aiuti, Alessandro
Publicado no Sci Rep (2017)