Showing results (11-20 of 32) with videos related to
Sort By:
Pageof 4
Orphanet Journal of Rare Diseases|November 17, 2021
Italian national consensus statement on management and pharmacological treatment of phenylketonuriaAlberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, et al.Metabolites|April 3, 2020
Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 PatientsCamilla Ceccarani, Giulia Bassanini, Chiara Montanari, et al.Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|December 15, 2015
Lens opacities in glycogenoses type I and IIIDavide Allegrini, Alessandro Autelitano, Paolo Fogagnolo, et al.Italian Journal of Pediatrics|March 29, 2022
L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case reportValentina Rovelli, Juri Zuvadelli, Marta Piotto, et al.Molecular Genetics and Metabolism Reports|April 28, 2021
PKU and COVID19: How the pandemic changed metabolic controlValentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, et al.Journal of Inherited Metabolic Disease|August 25, 2017
Predictability and inconsistencies in the cognitive outcome of early treated PKU patientsFilippo Manti, Francesca Nardecchia, Sabrina Paci, et al.The Journal of Pediatrics|February 3, 2015
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian studyDaniela Melis, Mariarosaria Cozzolino, Giorgia Minopoli, et al.JIMD Reports|July 1, 2015
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type IbDaniela Melis, Giorgia Minopoli, Francesca Balivo, et al.Frontiers in Physiology|May 29, 2019
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New CasesElisa Fermo, Cristina Vercellati, Anna Paola Marcello, et al.BMJ Paediatrics Open|December 12, 2024
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal studyMarco Bani, Selena Russo, Serena Gasperini, et al.Pageof 4