MARIA MERCEDES
GIL CAMPOS
Copenhagen University Hospital
Copenhague, DinamarcaPublicaciones en colaboración con investigadores/as de Copenhagen University Hospital (6)
2020
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The SPARKLE registry: Protocol for an international prospective cohort study in patients with alpha-mannosidosis
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Molecular Genetics and Metabolism Reports, Vol. 23
2019
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Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group
Molecular Genetics and Metabolism, Vol. 126, Núm. 4, pp. 470-474
2018
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Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Journal of Inherited Metabolic Disease, Vol. 41, Núm. 6, pp. 1225-1233
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Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
Journal of Inherited Metabolic Disease, Vol. 41, Núm. 6, pp. 1215-1223
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Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis: Long-Term Data of Enzyme Replacement Therapy With Velmanase Alfa (Human Recombinant Alpha Mannosidase)
Journal of Inborn Errors of Metabolism and Screening, Vol. 6