López de Frutos L - Search Results

1

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously.

Noya M, Andrade-Campos M, Irun P, López de Frutos L, López-Fernandez M, Giraldo P. Noya M, et al. Among authors: lopez fernandez m, lopez de frutos l. Clin Case Rep. 2018 Mar 15;6(5):887-892. doi: 10.1002/ccr3.1460. eCollection 2018 May. Clin Case Rep. 2018. PMID: 29744080 Free PMC article.

2

Muscle-tendon weakness contributes to chronic fatigue syndrome in Gaucher's disease.

Roca-Espiau M, Andrade-Campos M, Cebolla JJ, López de Frutos L, Medrano-Engay B, López-Royo MP, Giraldo P. Roca-Espiau M, et al. Among authors: lopez de frutos l. J Orthop Surg Res. 2019 Nov 21;14(1):383. doi: 10.1186/s13018-019-1452-y. J Orthop Surg Res. 2019. PMID: 31752949 Free PMC article.

3

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

Irún P, Cebolla JJ, López de Frutos L, De Castro-Orós I, Roca-Espiau M, Giraldo P. Irún P, et al. Among authors: lopez de frutos l. Clin Chem Lab Med. 2020 Apr 28;58(5):798-809. doi: 10.1515/cclm-2019-0949. Clin Chem Lab Med. 2020. PMID: 32126008

4

Allelic and phenotypic characterization of CYP2D6 and its encoded P450 cytochrome enzyme in a serie of Spanish type 1 Gaucher disease patients.

López de Frutos L, Alfonso P, Lahoz C, Irún P, Giraldo P. López de Frutos L, et al. Med Clin (Barc). 2020 Dec 24;155(12):529-534. doi: 10.1016/j.medcli.2020.01.032. Epub 2020 May 25. Med Clin (Barc). 2020. PMID: 32466973 English, Spanish.

5

The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases.

López de Frutos L, Cebolla JJ, Irún P, Köhler R, Giraldo P. López de Frutos L, et al. Clin Chim Acta. 2018 May;480:161-165. doi: 10.1016/j.cca.2018.02.010. Epub 2018 Feb 13. Clin Chim Acta. 2018. PMID: 29447902

6

Biomarker combination is necessary for the assessment of Gaucher disease?

Giraldo P, López de Frutos L, Cebolla JJ. Giraldo P, et al. Among authors: lopez de frutos l. Ann Transl Med. 2018 Nov;6(Suppl 1):S81. doi: 10.21037/atm.2018.10.69. Ann Transl Med. 2018. PMID: 30613656 Free PMC article. No abstract available.

7

Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes.

López de Frutos L, Cebolla JJ, Irún P, Köhler R, Giraldo P. López de Frutos L, et al. Methods Inf Med. 2019 Jun;58(1):50-59. doi: 10.1055/s-0039-1692463. Epub 2019 Jul 5. Methods Inf Med. 2019. PMID: 31277084

8

New variants in Spanish Niemann-Pick type c disease patients.

López de Frutos L, Cebolla JJ, Aldámiz-Echevarría L, de la Vega Á, Stanescu S, Lahoz C, Irún P, Giraldo P. López de Frutos L, et al. Mol Biol Rep. 2020 Mar;47(3):2085-2095. doi: 10.1007/s11033-020-05308-7. Epub 2020 Feb 14. Mol Biol Rep. 2020. PMID: 32060698

9

Serum protein profile analysis in lysosomal storage disorders patients.

López de Frutos L, García-González E, García-Rodríguez B, González-Irazabal Y, Lahoz C, Irún P, Cebolla JJ, Giraldo P. López de Frutos L, et al. Clin Chim Acta. 2020 Nov;510:430-436. doi: 10.1016/j.cca.2020.07.056. Epub 2020 Aug 1. Clin Chim Acta. 2020. PMID: 32745579

10

Neonatal cholestasis and Niemann-pick type C disease: A literature review.

López de Frutos L, Cebolla JJ, de Castro-Orós I, Irún P, Giraldo P. López de Frutos L, et al. Clin Res Hepatol Gastroenterol. 2021 Nov;45(6):101757. doi: 10.1016/j.clinre.2021.101757. Epub 2021 Jul 22. Clin Res Hepatol Gastroenterol. 2021. PMID: 34303826 Review.

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