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List of works by Jorge Javier Cebolla

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

scientific article published on 21 February 2017

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

scientific article published on 3 September 2015

Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C

scientific article published on 31 January 2017

LC-MS/MS analysis of plasma glucosylsphingosine as a biomarker for diagnosis and follow-up monitoring in Gaucher disease in the Spanish population

scientific article published on 01 April 2020

New variants in Spanish Niemann-Pick type c disease patients

scientific article published on 14 February 2020

The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease

scientific article published on 15 May 2015

Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.

scientific article published on 9 March 2017

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