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Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.
Clin Chim Acta. 2013 Mar 15;418:107-8. doi: 10.1016/j.cca.2012.12.015. Epub 2013 Jan 7.
Clin Chim Acta. 2013.
PMID: 23305799
[Tetra-saccharide glucose as a diagnostic biomarker for Pompe disease: a study with 35 patients].
Bobillo Lobato J, Durán Parejo P, Tejero Díez P, Jiménez Jiménez LM.
Bobillo Lobato J, et al.
Med Clin (Barc). 2013 Aug 4;141(3):106-10. doi: 10.1016/j.medcli.2013.02.035. Epub 2013 Jun 5.
Med Clin (Barc). 2013.
PMID: 23756115
Clinical Trial.
Spanish.
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[Cathepsin K as a biomarker of bone involvement in type 1 Gaucher disease].
Bobillo Lobato J, Durán Parejo P, Núñez Vázquez RJ, Jiménez Jiménez LM.
Bobillo Lobato J, et al.
Med Clin (Barc). 2015 Oct 5;145(7):281-7. doi: 10.1016/j.medcli.2014.11.018. Epub 2015 Feb 4.
Med Clin (Barc). 2015.
PMID: 25662720
Spanish.
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Biomarkers in Lysosomal Storage Diseases.
Bobillo Lobato J, Jiménez Hidalgo M, Jiménez Jiménez LM.
Bobillo Lobato J, et al.
Diseases. 2016 Dec 17;4(4):40. doi: 10.3390/diseases4040040.
Diseases. 2016.
PMID: 28933418
Free PMC article.
Review.
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Prevalence of severe hypercholesterolemia observed in different hospitals in Andalusia and Ceuta.
Arrobas Velilla T, Varo Sánchez G, Romero García I, Melguizo Madrid E, Rodríguez Sánchez FI, León Justel A; en colaboración con el Grupo de trabajo de riesgo vascular de Andalucía; Miembros del Grupo de trabajo de riesgo vascular de Andalucía..
Arrobas Velilla T, et al.
Clin Investig Arterioscler. 2021 Sep-Oct;33(5):217-223. doi: 10.1016/j.arteri.2020.12.009. Epub 2021 Apr 2.
Clin Investig Arterioscler. 2021.
PMID: 33820671
English, Spanish.
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