Concepedia

Judit Macías‐Vidal

JM

Statistics

Publications

11

Citations

449

H-Index

11

Active since

2009

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Instituto de Investigación de Enfermedades Raras

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer

Universitat de Barcelona

Hospital Clínic de Barcelona

Judit Macías‐Vidal is an author at Centre for Biomedical Network Research on Rare Diseases specializing in niemann-pick disease type c, life sciences, and genetic disorders.

ORCID

Publications per year

2009–2024

11

Publications

11

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

M. Pineda, María‐Socorro Pérez‐Poyato, Mar O’Callaghan et al. · Molecular Genetics and Metabolism · 2009 · 146 citations

, , +5

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

Sonia Pajares, Ángela Arias, Judit García‐Villoria et al. · Journal of Lipid Research · 2015 · 70 citations · Full text

, , +17

Molecular analysis of 30 Niemann-Pick type C patients from Spain

Judit Macías‐Vidal, Laura Rodríguez‐Pascau, Gessamí Sánchez-Ollé et al. · Clinical Genetics · 2010 · 46 citations

, , +17

GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients

Laura Gort, Natalia de Olano, Judit Macías‐Vidal et al. · Gene · 2012 · 42 citations

, , +6

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

Judit Macías‐Vidal, Laura Gort, M Lluch et al. · Molecular Genetics and Metabolism · 2009 · 31 citations

, , +14

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