Publications by authors named "Pilar Giraldo"

100Publications

[A novel mutation in two spanish children with the Niemann Pick disease: Description of genotype, acid sphingomyelinase activity, phenotype and review].

An Pediatr (Barc) 2020 Aug 7. Epub 2020 Aug 7.

Departamento de Bioquímica, Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Zaragoza, España.

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August 2020

Serum protein profile analysis in lysosomal storage disorders patients.

Clin Chim Acta 2020 Nov 1;510:430-436. Epub 2020 Aug 1.

Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza 50009, Spain.

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November 2020

Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients in Spain: Time to reconsider home-based therapies?

Blood Cells Mol Dis 2020 11 14;85:102478. Epub 2020 Jul 14.

Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain; Grupo de Estudio en Enfermedades de Depósito Lisosomal, Sociedad Española de Hematología y Hemoterapia, Zaragoza, Spain. Electronic address:

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November 2020

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

Med Clin (Barc) 2020 Dec 25;155(12):529-534. Epub 2020 May 25.

Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, Spain.

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December 2020

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

Mol Biol Rep 2020 Mar 14;47(3):2085-2095. Epub 2020 Feb 14.

Fundación Instituto de Investigación Sanitaria Aragón (IIS Aragón) GIIS-012, Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Edificio General, Planta 0. Paseo Isabel la Católica 1-3, 50009, Zaragoza, Spain.

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March 2020

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

J Orthop Surg Res 2019 Nov 21;14(1):383. Epub 2019 Nov 21.

Fundación Española Estudio y Tratamiento de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, Spain.

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November 2019

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

Methods Inf Med 2019 06 5;58(1):50-59. Epub 2019 Jul 5.

Instituto de Investigación Sanitaria Aragón (IIS Aragón), Unidad de Investigación Traslacional (GIIS012), Hospital Universitario Miguel Servet, Zaragoza, Spain.

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June 2019

Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study.

Atherosclerosis 2019 06 18;285:49-54. Epub 2019 Mar 18.

Instituto de Investigación Sanitaria Aragón (IIS Aragón), GIIS-012, Zaragoza, 50009, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CB/06/07/1036, Instituto de Salud Carlos III (ISCIII), Hospital Universitario Miguel Servet, Zaragoza, 50009, Spain; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, 50008, Spain.

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June 2019

Biomarker combination is necessary for the assessment of Gaucher disease?

Ann Transl Med 2018 Nov;6(Suppl 1):S81

Spanish Gaucher Disease Foundation (FEETEG), Spain.

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November 2018

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

Clin Chim Acta 2018 May 13;480:161-165. Epub 2018 Feb 13.

Instituto de Investigación Sanitaria Aragón (IIS Aragón) GIIS-012, Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza 50009, Spain; Fundación para el Estudio y la Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza 50009, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) U-752, Zaragoza 50009, Spain.

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May 2018

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.

Front Physiol 2017 31;8:39. Epub 2017 Jan 31.

Instituto de Investigación Sanitaria AragónZaragoza, Spain; Aragón Institute of Health SciencesZaragoza, Spain; Centro de Investigación Biomédica en Red de Enfermedades RarasZaragoza, Spain; Aragón Agency for Research and DevelopmentZaragoza, Spain.

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January 2017

The utility of magnetic resonance imaging for bone involvement in Gaucher disease. Assessing more than bone crises.

Blood Cells Mol Dis 2018 02 21;68:126-134. Epub 2016 Oct 21.

Translational Research Unit, Aragon Health Research Institute (IIS-A), Zaragoza, Spain; CIBER de Enfermedades Raras, CIBERER, Zaragoza, Spain; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher (FEETEG), Zaragoza, Spain. Electronic address:

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February 2018

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.

Eur J Intern Med 2017 Jan 10;37:25-32. Epub 2016 Aug 10.

Department of Medicine, University of Cambridge, Box 157, Level 5, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom. Electronic address:

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January 2017

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

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August 2016

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

Mol Genet Metab 2016 Feb 23;117(2):186-93. Epub 2015 Dec 23.

Department of Medical Biochemistry, Academic Medical Center, 1105, AZ, Amsterdam, The Netherlands; Department of Medical Biochemistry, Leiden Institute of Chemistry, Leiden University, 2333, CC, Leiden, The Netherlands. Electronic address:

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February 2016

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

PLoS One 2015 15;10(5):e0126153. Epub 2015 May 15.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Zaragoza, Spain; Translational Research Unit, Miguel Servet University Hospital, Zaragoza, Spain; Spanish Gaucher Disease Foundation (FEETEG), Zaragoza, Spain; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, Spain.

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April 2016

Patients Older Than 65 Years With Non-Hodgkin Lymphoma Are Suitable for Treatment With (90)Yttrium-Ibritumumab Tiuxetan: A Single-Institution Experience.

Clin Lymphoma Myeloma Leuk 2015 Aug 5;15(8):464-71. Epub 2015 Mar 5.

Translational Research Unit, Miguel Servet University Hospital-Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain; Centro de Investigación Biomédica en Red (CIBERER) Instituto de Salud Carlos III, Zaragoza, Spain. Electronic address:

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August 2015

Association of ferritin elevation and metabolic syndrome in males. Results from the Aragon Workers' Health Study (AWHS).

J Clin Endocrinol Metab 2015 May 19;100(5):2081-9. Epub 2015 Feb 19.

Instituto Aragonés de Ciencias de la Salud (M.Led., M.Leo., P.G., M.P., F.C., J.A.C.), 50009 Zaragoza, Spain; Department of Epidemiogy, Atherothrombosis and Imaging (Y.H.-R., J.M.O., M.La), Spanish National Center for Cardiovascular Research, 28029 Madrid, Spain; CIBER de enfermedades Raras CIBERER, 50009 Zaragoza, Spain (P.G.); Departments of Epidemiology and Medicine (E.G.), and Welch Center for Prevention, Epidemiology, and Clinical Research, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205; Department of Preventive Medicine and Public Health (M.La), School of Medicine, Universidad Autonoma de Madrid, 28029 Madrid, Spain; and Department of Epidemiology (M.La), St. Louis University, St. Louis, Missouri 63104.

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May 2015

Zoledronic acid in the management of bone disease as a consequence of multiple myeloma: a review.

Eur J Haematol 2014 Mar 10;92(3):181-8. Epub 2014 Jan 10.

Hospital Universitario de la Princesa, Madrid, Spain.

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March 2014

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Hum Mutat 2013 Oct 13;34(10):1396-403. Epub 2013 Aug 13.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Valencia, Spain; Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, Spain; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, Spain.

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October 2013

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Orphanet J Rare Dis 2012 Mar 19;7:17. Epub 2012 Mar 19.

Centro de Investigación Biomédica en Red de Enfermedades Raras, Zaragoza, Spain.

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March 2012

The cognitive profile of type 1 Gaucher disease patients.

J Inherit Metab Dis 2012 Nov 21;35(6):1093-9. Epub 2012 Feb 21.

Department of Internal Medicine, Academic Medical Center, F5-169, Box 22700, 1100 DE, Amsterdam, The Netherlands.

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November 2012

[Guidelines for type 1 Gaucher's disease].

Authors:
Pilar Giraldo

Med Clin (Barc) 2011 Sep;137 Suppl 1:55-60

Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematología, Hospital Universitario Miguel Servet, Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain.

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September 2011

[Current treatment for Gaucher's disease and new prospects].

Med Clin (Barc) 2011 Sep;137 Suppl 1:50-4

Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematología, Hospital Universitario Miguel Servet, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain.

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September 2011

[Therapeutic targets in Gaucher's disease].

Med Clin (Barc) 2011 Sep;137 Suppl 1:46-9

Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematología, Hospital Universitario Miguel Servet, Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain.

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September 2011

[Safety of use of velaglucerase in 2 patients with type 1 Gaucher's disease].

Med Clin (Barc) 2011 Sep;137 Suppl 1:39-42

Atención Primaria Delicias Norte, Fundación Española para el Estudio y Tratamiento de la Enfermedad de Gaucher, Zaragoza, Spain.

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September 2011

[Rare diseases. Introduction].

Authors:
Pilar Giraldo

Med Clin (Barc) 2011 Sep;137 Suppl 1:1-2

Grupo de Estudio de Enfermedad de Gaucher y Neoplasias Hematológicas, Servicio de Hematología, Hospital Universitario Miguel Servet; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-U752), Instituto Aragonés de Ciencias de la Salud, Zaragoza, Spain.

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September 2011

Gastrointestinal disturbances and their management in miglustat-treated patients.

J Inherit Metab Dis 2011 Oct 21;34(5):991-1001. Epub 2011 Jul 21.

Reference Centre for Lysosomal Diseases, Beaujon Hospital, Clichy, France.

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October 2011

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

J Inherit Metab Dis 2011 Jun 8;34(3):781-7. Epub 2011 Mar 8.

Hematology Department, Miguel Servet University Hospital, Pº Isabel La Católica 1-3, 50009 Zaragoza, Spain.

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June 2011

Effect of phlebotomy on lipid metabolism in subjects with hereditary hemochromatosis.

Metabolism 2011 Jun 16;60(6):830-4. Epub 2010 Sep 16.

Unidad de Lípidos and Laboratorio de Investigacion Molecular, Hospital Universitario Miguel Servet, Instituto Aragones de Ciencias de la Salud (I + CS), 50009 Zaragoza, Spain.

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June 2011