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JIMD Reports|January 13, 2023
Isolated neurological presentations of mevalonate kinase deficiencyEva M M Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, et al.
Journal of Clinical Medicine|March 19, 2020
Hip Morphology in Mucolipidosis Type IILuise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, et al.
Journal of Neuropathology and Experimental Neurology|February 8, 2006
OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomasTalitha de Haas, Esmeralda Oussoren, Wieslawa Grajkowska, et al.
Orphanet Journal of Rare Diseases|May 7, 2024
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring programRoberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, et al.
Human Gene Therapy|December 12, 2023
Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct CartilageFabio Catalano, Eva C Vlaar, Zina Dammou, et al.
EMBO Molecular Medicine|September 29, 2025
Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndromeFabio Catalano, Dejan Stevic, Giacomo Zundo, et al.
Molecular Genetics and Metabolism|July 27, 2025
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment optionsSusanna M I Goorden, Désirée Y van Haaften-Visser, Maria M Trętowicz, et al.
Molecular Therapy. Methods & Clinical Development|November 30, 2023
Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type IIFabio Catalano, Eva C Vlaar, Drosos Katsavelis, et al.
Journal of Inherited Metabolic Disease|November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic DiseasesEllen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
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