Annalisa Madeo
@gaslini.org
IRCCS Giannina Gaslini
Scopus Publications
- The ‘double hit’ on dalbavancin pharmacokinetics: hypertriglyceridaemia and augmented renal clearance in a child with glycogen storage disease type Ib
Bianca Monti, Erica Ricci, Marcello Mariani, Alessio Mesini, Carolina Saffioti, et al.
Journal of Antimicrobial Chemotherapy, 2026 - Nissen fundoplication in infants less than 12 months of age: a single-center experience
Caterina Sacchetti, Michela Cing Yu Wong, Valentina Rossi, Annalisa Madeo, Serena Arrigo, et al.
Updates in Surgery, 2026 - A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review
Francesca Cappozzo, Mariasavina Severino, Elena Gennaro, Francesca Faravelli, Marina Martinez Popple, et al.
Molecular Genetics and Metabolism Reports, 2025 - Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review
Alessandro La Rosa, Alessia Pepe, Barbara Tappino, Fabio Corsolini, Andrea Chiaro, et al.
Molecular Genetics and Metabolism Reports, 2025 - State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases
Terry G. J. Derks, Ruben J. Overduin, Sarah C. Grünert, Alessandro Rossi, and
Journal of Inherited Metabolic Disease, 2025
Continuous glucose monitoring (CGM) is increasingly used although not officially registered for the management of people living with liver glycogen storage diseases (GSDs). The aims of this study were twofold: (a) to investigate the current experiences of healthcare providers (HCPs), patients, and caregivers using CGM to monitor glucose concentrations in liver GSDs, and (b) to formulate consensus statements. Two web‐based questionnaires were distributed, one for HCPs and one for patients and/or their caregivers. The questionnaires collected data on demographics and epidemiology, current use of CGM, and opinions and statements about CGM in GSDs. For the statements, respondents rated their agreement on a 5‐point Likert scale, and the consensus level was set at 75%. One Hundred Fourteen HCPs (including 87 physicians and 26 dietitians) from 28 countries responded, representing care of approximately 3800 liver GSD patients. Additionally, 148 GSD patients and/or their caregivers from 21 countries responded, mainly representing GSD Ia (n = 50), GSD Ib (n = 56), GSD III (n = 14), and GSD IX (n = 18). The median age to consider starting to use CGM was 6 and 2 months for HCPs and GSD families, respectively. Out of 16 statements common to the two questionnaires, HCPs and patients/caregivers reached consensus on 12 statements in both groups. Use of CGM is considered standard of care by both HCPs and GSD families, but reimbursement of CGM devices is challenging. Compared to diabetes mellitus, CGM should be applied differently in liver GSDs. Consensus guidelines are warranted on the use of CGM in liver GSDs, both in routine healthcare and in clinical trials. - Real-world experience with odevixibat in children with progressive familial intrahepatic cholestasis
Angelo Di Giorgio, Marco Sciveres, Maurizio Fuoti, PierLuigi Calvo, Mara Cananzi, et al.
Jhep Reports, 2025 - Diagnosis and management of sclerosing cholangitis and inflammatory bowel disease in children: A survey by SIGENP
Matteo Bramuzzo, Fabiola Di Dato, Flavio Labriola, Luca Scarallo, Giovanna Zambrano, et al.
Digestive and Liver Disease, 2025 - Dieulafoy's duodenal lesion in an infant with leukaemia: A rare cause of gastrointestinal bleeding
Enrico Drago, Paolo Gandullia, Luca Arcuri, Erika Massaccesi, Alessandro La Rosa, et al.
Journal of Paediatrics and Child Health, 2024 - Non-interventional, 5-year retrospective data of home parenteral nutrition in patients with benign chronic intestinal failure: Analysis of an Italian nurse registry (SERECARE II)
Francesco William Guglielmi, Antonella Diamanti, Paolo Gandullia, Umberto Aimasso, Serena Arrigo, et al.
Nutrition, 2024 - Health-related quality of life in children with coeliac disease and in their families: A long-term follow-up study
Marco Crocco, Federica Malerba, Angela Calvi, Noemi Zampatti, Paolo Gandullia, et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
ObjectivesThe aim of the study was to assess long‐term health‐related quality of life (HRQoL) in children and adolescents with coeliac disease (CD), and their parents.MethodsWe re‐evaluated prospectively the HRQoL and clinical characteristics of 80 families, assessed 5 years earlier, using a disease‐specific questionnaire, the CD Dutch Questionnaire (CDDUX), and a generic questionnaire, the Paediatric Quality of Life Inventory (PedsQL).ResultsAfter a 10‐year follow‐up, there was no significant change in the total CDDUX and PedsQL scores in children and their parents when compared to the evaluation conducted 5 years earlier. The total CDDUX score reflected a neutral QoL, while for the generic PedsQL was good‐very good. The only significant decrease after 5 years was the PedsQL subdomain Emotional functioning. Patients who admitted voluntarily eating gluten reported lower score in CDDUX Diet. Lower scores in subdomain “Physical functioning” (PedsQL) were reported in patients with positivity of TTG or associated diseases.ConclusionsThe CDDUX score indicated a consistently stable and neutral QoL perception among coeliac patients and caregivers, even after 10‐year postdiagnosis, suggesting minimal fluctuations in the impact of CD on disease‐specific health domains over time. Furthermore, the consistently good PedsQL score could be a reflection of the resilience of coeliac families in coping with this chronic condition. Gluten‐free diet compliance was confirmed to be determinant of HRQoL in the long term. The study confirms the importance of extending surveillance on these patients, possibly using different questionnaires, to assess QoL from different perspectives. - Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
Maja Di Rocco, Eduardo Forleo-Neto, Robert J. Pignolo, Richard Keen, Philippe Orcel, et al.
Nature Medicine, 2023 - Italian children seem to be spared from the mysterious severe acute hepatitis outbreak: A report by SIGENP Acute Hepatitis Group
Fabiola Di Dato, Angelo Di Giorgio, Claudia Mandato, Giuseppe Maggiore, Raffaele Iorio, et al.
Journal of Hepatology, 2022 - Different renal manifestations associated with very early onset pediatric inflammatory bowel disease: case report and review of literature
A. Angeletti, S. Arrigo, A. Madeo, M. Molteni, E. Vietti, et al.
BMC Nephrology, 2021 - Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
Fabio Pettinato, Giovanni Mostile, Roberta Battini, Diego Martinelli, Annalisa Madeo, et al.
Cerebellum, 2021 - Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
Maurizio Miano, Annalisa Madeo, Enrico Cappelli, Federica Lanza, Tiziana Lanza, et al.
Journal of Allergy and Clinical Immunology in Practice, 2020 - COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Silvia Morlino, Lucia Micale, Marco Ritelli, Marianne Rohrbach, Nicoletta Zoppi, et al.
Clinical Genetics, 2020 - Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
Annalisa Madeo, Maja Di Rocco, Anaïs Brassier, Nadia Bahi-Buisson, Pascale De Lonlay, et al.
Molecular Genetics and Metabolism, 2019 - Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability
D. Tolomeo, A. Rubegni, M. Severino, F. Pochiero, C. Bruno, et al.
Journal of the Neurological Sciences, 2019 - Mucopolysaccharidoses: Early diagnostic signs in infants and children
Cinzia Galimberti, Annalisa Madeo, Maja Di Rocco, Agata Fiumara
Italian Journal of Pediatrics, 2018 - Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
M. Di Rocco, M. Rusmini, F. Caroli, A. Madeo, M. Bertamino, et al.
Clinical Genetics, 2018 - The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature
Annalisa Madeo, Alberto Garaventa, Angela Rita Sementa, Chiara Suffia, Maja Di Rocco
Blood Cells Molecules and Diseases, 2018 - Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini
Orphanet Journal of Rare Diseases, 2018 - Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, et al.
Plos Genetics, 2016 - Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease
Maja Di Rocco, Rita Barone, Annalisa Madeo, Agata Fiumara
Pediatric Neurology, 2015 - Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency
Stefano Giardino, Edoardo Lanino, Giuseppe Morreale, Annalisa Madeo, Maja Di Rocco, et al.
Pediatrics, 2015
