Miglustat in Niemann-Pick disease type C patients: a review
2018 · Orphanet Journal of Rare Diseases · 174 citations
https://doi.org/10.1186/s13023-018-0844-0
M
Mercè Pineda
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Mercè Pineda is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Genetics and Neurodevelopmental Disorders & Mitochondrial Function and Pathology. The author has an h-index of 30, co-authored 62 publications.
Papers by this author
worksWhole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
2016 · Human Genetics · 67 citations
https://doi.org/10.1007/s00439-016-1721-3
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB
2018 · Molecular Genetics and Metabolism · 24 citations
https://doi.org/10.1016/j.ymgme.2018.12.003
Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up
2021 · Biomedicine & Pharmacotherapy · 10 citations
https://doi.org/10.1016/j.biopha.2021.112143
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
2021 · Orphanet Journal of Rare Diseases · 10 citations
https://doi.org/10.1186/s13023-021-02063-1
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