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Journal of Inherited Metabolic Disease|September 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase DeficiencyMaurizio Scarpa, George A Diaz, Roberto Giugliani, et al.Molecular Genetics and Metabolism|November 10, 2016
Autism in patients with propionic acidemiaPeter Witters, Eric Debbold, Kea Crivelly, et al.Cell Reports|March 2, 2024
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural modelsSilvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, et al.Plos One|December 21, 2018
Optimisation of children z-score calculation based on new statistical techniquesAntonio Martinez-Millana, Jessie M Hulst, Mieke Boon, et al.Journal of Gastroenterology and Hepatology|September 18, 2007
Congenital veno-venous malformations of the liver: widely variable clinical presentationsPeter Witters, Geert Maleux, Christophe George, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDGPeter Witters, Shawn Tahata, Rita Barone, et al.Orphanet Journal of Rare Diseases|December 14, 2022
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year resultsGeorge A Diaz, Roberto Giugliani, Nathalie Guffon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?Peter Witters, Tomas Honzik, Eric Bauchart, et al.Orphanet Journal of Rare Diseases|May 3, 2018
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndromeGiorgia Bucciol, David Cassiman, Tania Roskams, et al.The FEBS Journal|November 14, 2018
Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase BLise Boon, Estefania Ugarte-Berzal, Erik Martens, et al.Pageof 8