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List of works by Judit Macías-Vidal

Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat.

scientific article published on 19 June 2013

Analysis of the CTNS gene in 32 cystinosis patients from Spain

scientific article published on 01 November 2009

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients

scientific article published on 14 October 2012

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

scientific article

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

scientific article

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

scientific article

Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.

scientific article published on 28 October 2015

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

scientific article published on 06 July 2010

Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes

scientific article published in November 2010

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings

scientific article published on 30 June 2014

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

scientific article published on 21 August 2014

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