Raquel Montero

Raquel Montero

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Raquel Montero

Raquel Montero

Publications by authors named "Raquel Montero"

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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

J Med Genet 2019 04 21;56(4):236-245. Epub 2018 Nov 21.

Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2018-105588DOI Listing
April 2019

Molecular diagnosis of coenzyme Q deficiency: an update.

Expert Rev Mol Diagn 2018 06 30;18(6):491-498. Epub 2018 May 30.

a Department of Genetic and Clinical Biochemistry , Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER) , Barcelona , Spain.

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http://dx.doi.org/10.1080/14737159.2018.1478290DOI Listing
June 2018

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

J Inherit Metab Dis 2017 09 24;40(5):709-713. Epub 2017 Mar 24.

Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-017-0028-4DOI Listing
September 2017

The Value of Coenzyme Q Determination in Mitochondrial Patients.

J Clin Med 2017 Mar 24;6(4). Epub 2017 Mar 24.

Clinical Biochemistry and Molecular Medicine Department, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.3390/jcm6040037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406769PMC
March 2017

Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.

Biofactors 2015 Nov-Dec;41(6):424-30. Epub 2015 Nov 19.

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1002/biof.1242DOI Listing
October 2016

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Mitochondrion 2016 May 11;28:73-8. Epub 2016 Apr 11.

Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.04.001DOI Listing
May 2016

Molecular diagnosis of coenzyme Q10 deficiency.

Expert Rev Mol Diagn 2015 4;15(8):1049-59. Epub 2015 Jul 4.

Department of Genetic and Molecular Medicine, and Pediatric Institute for Rare Diseases (IPER), Hospital Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1586/14737159.2015.1062727DOI Listing
April 2016

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

Mitochondrion 2015 May 10;22:17-22. Epub 2015 Mar 10.

Departamentos de Neurología, Bioquímica Clínica y de Patología, Hospital Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.03.001DOI Listing
May 2015

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

BMC Pediatr 2014 Nov 8;14:284. Epub 2014 Nov 8.

Clinical Biochemistry, Pediatric Neurology, Histopathology, Gastroenterology-Nutrition and Neuromuscular Unit Departments. Hospital Sant Joan de Déu and Centre For research in rare diseases (CIBERER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12887-014-0284-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228097PMC
November 2014

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.

Anal Bioanal Chem 2014 Jul 2;406(18):4337-43. Epub 2014 May 2.

Clinical Biochemistry Department, Hospital Sant Joan de Déu-CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007/s00216-014-7832
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http://link.springer.com/10.1007/s00216-014-7832-6
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http://dx.doi.org/10.1007/s00216-014-7832-6DOI Listing
July 2014

Biochemical diagnosis of coenzyme q10 deficiency.

Mol Syndromol 2014 Jul;5(3-4):147-55

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1159/000362390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112526PMC
July 2014

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

J Inherit Metab Dis 2014 Jan 18;37(1):53-62. Epub 2013 Jun 18.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, CIBERER, Edifici Helios III, planta baixa, C/Mejía Lequerica s/n, 08028, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-013-9620-4DOI Listing
January 2014

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

Mitochondrion 2013 Jul 11;13(4):337-41. Epub 2013 Apr 11.

Clinical Chemistry, Pathology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2013.04.001DOI Listing
July 2013

Genistein supplementation in patients affected by Sanfilippo disease.

J Inherit Metab Dis 2011 Oct 10;34(5):1039-44. Epub 2011 May 10.

Neuropediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-011-9342-4DOI Listing
October 2011

Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia.

Cerebellum 2011 Mar;10(1):1-8

Cardiology Department, Sant Joan de Déu Hospital, University of Barcelona, Esplugues, Spain.

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http://dx.doi.org/10.1007/s12311-010-0212-7DOI Listing
March 2011

Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Mov Disord 2010 Jul;25(9):1262-8

Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.23129DOI Listing
July 2010

Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.

J Chromatogr B Analyt Technol Biomed Life Sci 2009 Aug 30;877(24):2513-8. Epub 2009 Jun 30.

Institut de Bioquímica Clínica, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jchromb.2009.06.031DOI Listing
August 2009

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

Clin Biochem 2009 Mar 31;42(4-5):408-15. Epub 2008 Dec 31.

Institut de Bioquímica Clínica, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2008.12.013DOI Listing
March 2009

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.

Eur J Paediatr Neurol 2008 Nov 30;12(6):470-5. Epub 2008 Jan 30.

Neuropediatrics Department, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejpn.2007.11.006DOI Listing
November 2008

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Clin Biochem 2008 Jun 20;41(9):697-700. Epub 2008 Mar 20.

Department of Clinical Biochemistry, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III. Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2008.03.007DOI Listing
June 2008