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Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.Orphanet Journal of Rare Diseases|February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.Resuscitation Plus|October 13, 2025
CardioPulmonary resuscitation with Argon (CPAr): A protocol for a randomised controlled multicentre clinical trialGiuseppe Ristagno, Lidia Staszewsky, Giulia Merigo, et al.Journal of Inherited Metabolic Disease|April 15, 2021
Metachromatic leukodystrophy: A single-center longitudinal study of 45 patientsFrancesca Fumagalli, Alberto A Zambon, Paola M V Rancoita, et al.Journal of Clinical Immunology|August 9, 2022
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous DiseaseMaddalena Migliavacca, Luca Basso Ricci, Giada Farinelli, et al.Analytical Chemistry|January 11, 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass SpectrometryXinying Hong, Arun Babu Kumar, Jessica Daiker, et al.Journal of the American Heart Association|December 8, 2020
Ventilation With Argon Improves Survival With Good Neurological Recovery After Prolonged Untreated Cardiac Arrest in PigsFrancesca Fumagalli, Davide Olivari, Antonio Boccardo, et al.Stroke|February 23, 2021
Propranolol Reduces the Development of Lesions and Rescues Barrier Function in Cerebral Cavernous Malformations: A Preclinical StudyJoppe Oldenburg, Matteo Malinverno, Maria Ascencion Globisch, et al.Scientific Reports|January 12, 2017
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patientsAisha V Sauer, Raisa Jofra Hernandez, Francesca Fumagalli, et al.Nature|October 23, 2024
Long-term lineage commitment in haematopoietic stem cell gene therapyAndrea Calabria, Giulio Spinozzi, Daniela Cesana, et al.Pageof 10