Delia Yubero

Delia Yubero

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Delia Yubero

Delia Yubero

Publications by authors named "Delia Yubero"

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Infectious stress triggers a POLG-related mitochondrial disease.

Neurogenetics 2019 Oct 26. Epub 2019 Oct 26.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza-Instituto de Investigación Sanitaria de Aragón (IIS-Aragón), C/Pedro Cerbuna, 12, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s10048-019-00593-2DOI Listing
October 2019

NGS for Metabolic Disease Diagnosis.

EJIFCC 2018 Nov 7;29(3):227-229. Epub 2018 Nov 7.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247130PMC
November 2018

Mutation of PACS1: the milder end of the spectrum.

Clin Dysmorphol 2018 Oct;27(4):148-150

Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.

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http://dx.doi.org/10.1097/MCD.0000000000000237DOI Listing
October 2018

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.

Dev Med Child Neurol 2018 08 25;60(8):780-792. Epub 2018 Mar 25.

Department of Neurology, Neurometabolic Unit and Synaptic Metabolism Laboratory, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1111/dmcn.13746DOI Listing
August 2018

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

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

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

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