The Reciprocal Interplay between Infections and Inherited Metabolic Disorders

por Tummolo, Albina, Melpignano, Livio
Publicado 2023

COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center

por Tummolo, Albina, Paterno, Giulia, Dicintio, Annamaria, Stefanizzi, Pasquale, Melpignano, Livio, Aricò, Maurizio
Publicado 2021

COVID-19 Vaccine in Inherited Metabolic Disorders Patients: A Cross-Sectional Study on Rate of Acceptance, Safety Profile and Effect on Disease

por Tummolo, Albina, Dicintio, Annamaria, Paterno, Giulia, Carella, Rosa, Melpignano, Livio, De Giovanni, Donatella
Publicado 2022

Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?

por Dicintio, Annamaria, Paterno, Giulia, Carella, Rosa, Ortolani, Federica, Masciopinto, Maristella, De Giovanni, Donatella, Tummolo, Albina
Publicado 2022

Body Composition in Adolescent PKU Patients: Beyond Fat Mass

por Tummolo, Albina, Carella, Rosa, Paterno, Giulia, Bartolomeo, Nicola, Giotta, Massimo, Dicintio, Annamaria, De Giovanni, Donatella, Fischetto, Rita
Publicado 2022

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

por Tummolo, Albina, Gabrielli, Orazio, Gaeta, Alberto, Masciopinto, Maristella, Zampini, Lucia, Pavone, Luigi Michele, Di Natale, Paola, Papadia, Francesco
Publicado 2013

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment

por Ortolani, Federica, Piccinno, Elvira, Grasso, Valeria, Papadia, Francesco, Panzeca, Rossana, Cortese, Claudio, Felappi, Barbara, Tummolo, Albina, Vendemiale, Marcella, Barbetti, Fabrizio
Publicado 2015

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

por Burlina, Alberto, Biasucci, Giacomo, Carbone, Maria Teresa, Cazzorla, Chiara, Paci, Sabrina, Pochiero, Francesca, Spada, Marco, Tummolo, Albina, Zuvadelli, Juri, Leuzzi, Vincenzo
Publicado 2021

Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report

por Tummolo, Albina, Melpignano, Livio, Carella, Antonella, Di Mauro, Anna Maria, Piccinno, Elvira, Vendemiale, Marcella, Ortolani, Federica, Fedele, Stefania, Masciopinto, Maristella, Papadia, Francesco
Publicado 2018

Brain-Type Creatine Kinase Release from Cultured Osteoclasts Exposed to Neridronate in Children Affected by Osteogenesis Imperfecta Type 1

por Faienza, Maria Felicia, Tummolo, Albina, Celli, Mauro, Finocchiaro, Roberto, Piacente, Laura, Di Serio, Francesca, Nicchia, Grazia Paola, Brunetti, Giacomina, D’Eufemia, Patrizia
Publicado 2023

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

por Cazzorla, Chiara, Bensi, Giulia, Biasucci, Giacomo, Leuzzi, Vincenzo, Manti, Filippo, Musumeci, Antonella, Papadia, Francesco, Stoppioni, Vera, Tummolo, Albina, Vendemiale, Marcella, Polo, Giulia, Burlina, Alberto
Publicado 2018

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

por Tummolo, Albina, Leone, Piero, Tolomeo, Maria, Solito, Rita, Mattiuzzo, Matteo, Lepri, Francesca Romana, Lorè, Tania, Cardinali, Roberta, De Giovanni, Donatella, Simonetti, Simonetta, Barile, Maria
Publicado 2022

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

por Montanari, Chiara, Parolisi, Sara, Borghi, Elisa, Putignani, Lorenza, Bassanini, Giulia, Zuvadelli, Juri, Bonfanti, Cristina, Tummolo, Albina, Dionisi Vici, Carlo, Biasucci, Giacomo, Burlina, Alberto, Carbone, Maria Teresa, Verduci, Elvira
Publicado 2021

Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)

por Spataro, Federico, Viggiani, Fabio, Macchia, Domenico Giorgio, Rollo, Valentina, Tummolo, Albina, Suppressa, Patrizia, Sabba’, Carlo, Rossi, Maria Pia, Giliberti, Lucia, Satriano, Francesco, Nettis, Eustachio, Di Bona, Danilo, Caiaffa, Maria Filomena, Fischetto, Rita, Macchia, Luigi
Publicado 2022

Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs

por Tragni, Vincenzo, Primiano, Guido, Tummolo, Albina, Cafferati Beltrame, Lucas, La Piana, Gianluigi, Sgobba, Maria Noemi, Cavalluzzi, Maria Maddalena, Paterno, Giulia, Gorgoglione, Ruggiero, Volpicella, Mariateresa, Guerra, Lorenzo, Marzulli, Domenico, Servidei, Serenella, De Grassi, Anna, Petrosillo, Giuseppe, Lentini, Giovanni, Pierri, Ciro Leonardo
Publicado 2022

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

por Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia
Publicado 2021

A genetic modifier of symptom onset in Pompe disease

por Bergsma, Atze J., in 't Groen, Stijn L.M., van den Dorpel, Jan J.A., van den Hout, Hannerieke J.M.P., van der Beek, Nadine A.M.E., Schoser, Benedikt, Toscano, Antonio, Musumeci, Olimpia, Bembi, Bruno, Dardis, Andrea, Morrone, Amelia, Tummolo, Albina, Pasquini, Elisabetta, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2019

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

por Elmonem, Mohamed A., Belanger-Quintana, Amaya, Bordugo, Andrea, Boruah, Ritma, Cortès-Saladelafont, Elisenda, Endrakanti, Mounika, Giraldo, Pilar, Grünert, Sarah Catharina, Gupta, Neerja, Kabra, Madhulika, Knerr, Ina, Krämer, Johannes, Kuster, Alice, Levtchenko, Elena, Ngu, Lock-Hock, Rovira-Remisa, M. Mar, Sass, Jörn Oliver, Sykut-Cegielska, Jolanta, Tummolo, Albina, van den Heuvel, Lambertus P.
Publicado 2020