E-LIB Suche - Ergebnisse für: Mozas, Pilar

1

Exploring lipid biomarkers in Gaucher disease: LC-MS/MS ana..:

Arevalo-Vargas, Isidro ; Gonzalo, Irene Serrano ; Lahoz, Carlos...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107751 , 2024

Link: https://doi.org/10.1016/..

2

Correlation between chitotriosidase activity in dried blood..:

Arevalo-Vargas, Isidro ; Gonzalo, Irene Serrano ; Lahoz, Carlos..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107750 , 2024

Link: https://doi.org/10.1016/..

3

Glycosphingolipids assessments of Gaucher disease patients ..:

Arévalo-Vargas, Isidro ; de Frutos, Laura López ; Gonzalo, Irene Serrano...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107005 , 2023

Link: https://doi.org/10.1016/..

4

Evaluating the performance of 16 in silico predictors on 22..:

Arevalo-Vargas, Isidro ; Serrano-Gonzalo, Irene ; Lahoz, Carlos...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S18-S19 , 2022

Link: https://doi.org/10.1016/..

5

Evaluation of two approaches to lysosomal acid lipase defic..:

Cebolla, Jorge J. ; Irún, Pilar ; Mozas, Pilar.
Atherosclerosis. 285 (2019) - p. 49-54 , 2019

Link: https://doi.org/10.1016/..

6

Assessment of plasma chitotriosidase activity, CCL18/PARC c..:

on behalf of the Spanish NP-C Group ; De Castro-Orós, Isabel ; Irún, Pilar...
Journal of Translational Medicine. 15 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

7

Genetic Variants of LDLR and PCSK9 Associated with Variatio..:

De Castro-Orós, Isabel ; Solà, Rosa ; Valls, Rosa María...
PLOS ONE. 11 (2016) 3 - p. e0150785 , 2016

Link: https://doi.org/10.1371/..

8

Promoter variant −204A > C of the cholesterol 7α-hydroxylas..:

De Castro-Orós, Isabel ; Pampín, Sandra ; Cofán, Montserrat...
Clinical Nutrition. 30 (2011) 2 - p. 239-246 , 2011

Link: https://doi.org/10.1016/..

9

Comparison of DNA Array Platform vs DNA Sequencing as Genet..:

Pocoví, Miguel ; Martínez, Antonio ; Simón, Laureano...
Clinical Chemistry. 52 (2006) 10 - p. 1971-1972 , 2006

Link: https://doi.org/10.1373/..

10

Screening of APOB Gene Mutations in Subjects with Clinical ..:

Merino-Ibarra, Erardo ; Castillo, Sergio ; Mozas, Pilar...
Human Biology. 77 (2005) 5 - p. 663-673 , 2005

Link: https://doi.org/10.1353/..

11

Screening of APOB Gene Mutations in Subjects with Clinical ..:

MERIÑO-IBARRA, ERARDO ; CASTILLO, SERGIO ; MOZAS, PILAR...
Human Biology. 77 (2005) 5 - p. 663-673 , 2005

Link: https://www.jstor.org/st..

12

Molecular characterization of familial hypercholesterolemia..:

Mozas, Pilar ; Castillo, Sergio ; Tejedor, Diego...
Human Mutation. 24 (2004) 2 - p. 187-187 , 2004

Link: https://doi.org/10.1002/..

13

A mutation (−49C>T) in the promoter of the low density lipo..:

Mozas, Pilar ; Galetto, Román ; Albajar, Marta...
Journal of Lipid Research. 43 (2002) 1 - p. 13-18 , 2002

Link: https://doi.org/10.1016/..

14

The apolipoprotein B R3500Q gene mutation in Spanish subjec..:

Castillo, Sergio ; Tejedor, Diego ; Mozas, Pilar...
Atherosclerosis. 165 (2002) 1 - p. 127-135 , 2002

Link: https://doi.org/10.1016/..

15

Mutation analysis in 36 unrelated Spanish subjects with fam..:

Mozas, Pilar ; Cenarro, Ana ; Civeira, Fernando...
Human Mutation. 15 (2000) 5 - p. 483-484 , 2000

Link: https://doi.org/10.1002/..