GRAGNANIELLO, VINCENZA
GRAGNANIELLO, VINCENZA
Biochemical and cellular abnormalities in presymptomatic pediatric patients with Fabry disease and Gaucher disease identified through newborn screening
2026 Gragnaniello, Vincenza
Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease
2025 Gragnaniello, Vincenza; Carraro, Silvia; Zangardi, Tiziana; Cazzorla, Chiara; Gueraldi, Daniela; Burlina, Alberto B
Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails
2025 Gragnaniello, V.; Puma, A.; Gueraldi, D.; D'Errico, I.; Cazzorla, C.; Loro, C.; Porcu, E.; Salviati, L.; Burlina, A. B.
Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease
2025 Gragnaniello, V.; Cananzi, M.; Cavaliere, A.; Loro, C.; Cazzorla, C.; Gueraldi, D.; Puma, A.; Burlina, A. B.
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening
2025 Gragnaniello, V.; Gueraldi, D.; Saracini, A.; Velasquez Rivas, D.; Cazzorla, C.; Salviati, L.; Burlina, A. B.
Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden
2025 Cazzorla, C.; Gragnaniello, V.; Gaiga, G.; Gueraldi, D.; Puma, A.; Loro, C.; Benetti, G.; Schiavo, R.; Porcu, E.; Burlina, A. P.; Burlina, A. B.
State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases
2025 Derks, T. G. J.; Overduin, R. J.; Grunert, S. C.; Rossi, A.; Derks, T. G. J.; Overduin, R. J.; De Oliveira, B. M.; Park, J. H.; Weinstein, D.; De Leon, D. D.; Landau, Y. E.; La Rosa, A.; Cohen, D.; Schumann, A.; Kwun, A. K. M.; Kang, Y.; De Boer, F.; Clemente, M.; Smith, W. E.; Breilyn, M. S.; Riba-Wolman, R.; Loechner, K.; Mount, M.; Mitchell, J.; Vergano, S.; Rosenbaum-Fabian, S.; King, S.; Ferrecchia, I.; Bhattacharya, K.; Rodriguez-Buritica, D. F.; Ross, K.; Skouma, A.; Lund, A. M.; Robinson, E.; Hessenthaler, C.; Corcoran, E.; Tonon, T.; Karall, D.; Sliwoski, L.; Steuerwald, U.; Mohand, P. P.; Sallago, J. B.; Maldonado, N. L.; Bethel, R.; Boyer, M.; Fazio, T.; Gragnaniello, V.; Couce, M. -L.; Falanga, C.; Groselj, U.; Rawls-Castillo, B.; Olivares-Sandoval, Z.; Moura De Souza, C. F.; Scholl-Buergi, S.; Madeo, A.; Hennermann, J. B.; Venegas, E.; Maiorana, A.; Haas, D.; Weil, B.; Thimm, E.; Shtylla, A.; Opladen, T.; Scherer, T.; Bourque, D. K.; Preci, T.; Hochuli, M.; Casswall, T.; Crushell, E.; Kaur, S.; Zsidegh, P.; Lapatto, R.; Gautschi, M.; Moslinger, D.; Witters, P.; Stachelhaus-Theimer, U.; Tomberlin, F.; Torkar, A. D.; Procopio, E.; Matos, L. D.; Wortmann, S.; Neugebauer, J.; Rink, T.; Weinhold, N.; Vijay, S.; Engen, K.; Nuoffer, J. -M.; Haijer-Schreuder, A.; Freisinger, P.; Williams, M.; Janeiro, P.; Parnarauskiene, J.; Kasapkara, C. S.; Olmos, M. A. M.; El-Gharbawy, A.; Saavedra, H.; Longo, N.; Apodaca, M. R.; Bijarnia-Mahay, S.; Tumer, L.; Huemer, M.; Santer, R.; Ghaloul-Gonzalez, L.; Anderson, K.; Koch, R. L.; Kogelmann, C.; Sapuppo, A.; Shayota, B.; Van Der Klauw, M. M.; Ezgu, F.; Kamrath, C.; Caroe, C.; Stepien, K. M.; White, F.; Grunert, S. C.; Rossi, A.
The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders
2025 Gragnaniello, V.; Cazzorla, C.; Gueraldi, D.; Puma, A.; Loro, C.; Burlina, A. B.
The multifaceted challenges faced by women in the field of inherited metabolic disorders
2025 Lenzini, Livia; Bianconi, Sara; Gugelmo, Giorgia; Gragnaniello, Vincenza; Messerotti Benvenuti, Simone; Fadini, Gian Paolo; Vitturi, Nicola
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy
2024 Fiumara, A.; Sapuppo, A.; Gasperini, S.; Crescitelli, V.; Sacchini, M.; Procopio, E.; Gragnaniello, V.; Burlina, A.
Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients
2024 Burlina, Alessandro P; Manara, Renzo; Carretta, Jessica; Cazzorla, Chiara; Loro, Christian; Gragnaniello, Vincenza; Burlina, Alberto B
Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy
2024 Gragnaniello, V.; Cazzorla, C.; Gueraldi, D.; Loro, C.; Porcù, E.; Salviati, L.; Burlina, A. P.; Burlina, A. B.
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
2024 Burlina, A. B.; Burlina, A. P.; Mignani, R.; Cazzorla, C.; Gueraldi, D.; Puma, A.; Loro, C.; Baumgartner, M. R.; Gragnaniello, V.
Role of Circulating X-Chromosome Inactivation and Xist as Biomarkers in Female Carriers of Fabry Disease
2024 Rossi, S.; Fargnoli, A.; Di Natale, D.; Dalla Zanna, G.; Funcis, A.; Re, F.; Gragnaniello, V.; Verrecchia, E.; Burlina, A.; Tabolacci, E.; Silvestri, G.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
2024 Parenti, G.; Fecarotta, S.; Alagia, M.; Attaianese, F.; Verde, A.; Tarallo, A.; Gragnaniello, V.; Ziagaki, A.; Guimaraes, M. J.; Aguiar, P.; Hahn, A.; Azevedo, O.; Donati, M. A.; Kiec-Wilk, B.; Scarpa, M.; Van Der Beek, N. A. M. E.; Del Toro Riera, M.; Germain, D. P.; Huidekoper, H.; Van Den Hout, J. M. P.; Van Der Ploeg, A. T.; Zeman, J.; Witters, P.; Weinhold, N.; Vijay, S.; Van Hasselt, P. M.; Ullrich, K.; Tournev, I.; Salviati, A.; Rutsch, F.; Roland, D.; Rokicki, D.; Rodrigues, E.; Pfliegler, G.; Miclea, D.; Martins, E.; Martin-Hernandez, E.; Komninaka, V.; Kingma, S.; Jones, S.; Hiwot, T. G.; Hennermann, J.; Guffon-Fouilhoux, N.; Grosso, S.; Lopez, A. G. -M.; Gasperini, S.; Gaspar, A. M.; Ferreira, A.; Eyskens, F.; Dobbelaere, D.; Di Rocco, M.; De Las Heras Montero, J.; De Abreu Freire Diogo Matos, L. M.; Deegan, P.; Debray, F. G.; Das, A. M.; Darin, N.; Couce-Pico, M. L.; Chronopoulou, E.; Chabrol, B.; Cassiman, D.; Burlina, A.; Brassier, A.; Bosch, A. M.; Bordugo, A.; Belmatoug, N.; Batzios, S.; Baric, I.
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy
2024 Porta, F.; Maiorana, A.; Gragnaniello, V.; Procopio, E.; Gasperini, S.; Taurisano, R.; Spada, M.; Dionisi-Vici, C.; Burlina, A.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
2023 Gragnaniello, V.; Gueraldi, D.; Puma, A.; Commone, A.; Cazzorla, C.; Loro, C.; Porcu, E.; Stornaiuolo, M.; Miglioranza, P.; Salviati, L.; Wanders, R. J. A.; Burlina, A.
Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment
2023 Terrone, G.; Gragnaniello, V.; Esposito, A.; Del Puente, A.; Del Giudice, E.
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy
2023 Gragnaniello, Vincenza; Cazzorla, Chiara; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Porcù, Elena; Stornaiuolo, Maria; Miglioranza, Paolo; Salviati, Leonardo; Burlina, Alessandro P; Burlina, Alberto B
Long-term follow-up of a patient with neonatal form of Gaucher disease
2023 Gragnaniello, V.; Cazzorla, C.; Gueraldi, D.; Loro, C.; Massa, P.; Puma, A.; Cananzi, M.; Salviati, L.; Burlina, A. P.; Burlina, A. B.