Publications by authors named "Antonia Ribes"

81Publications

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

Mol Genet Metab 2020 Nov 13;131(3):349-357. Epub 2020 Oct 13.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain. Electronic address:

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November 2020

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.

Mitochondrion 2020 11 17;55:78-84. Epub 2020 Sep 17.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain. Electronic address:

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November 2020

Physiopathological Bases of the Disease Caused by Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response.

J Clin Med 2020 Mar 26;9(4). Epub 2020 Mar 26.

Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, 08028 Barcelona, Spain.

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March 2020

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

J Clin Med 2020 Feb 28;9(3). Epub 2020 Feb 28.

Stem Cells, Aging and Neurodegeneration Group, Department of Clinical Sciences, Neurology, Lund Stem Cell Center, Lund University, SE-22184 Lund, Sweden.

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February 2020

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).

Front Immunol 2019 22;10:2406. Epub 2019 Oct 22.

Pediatric Infectious Diseases and Immunodeficiencies Unit, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.

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September 2020

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

Clin Genet 2018 12;94(6):592-593

Secció Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, Barcelona, Spain.

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December 2018

Ghrelin Causes a Decline in GABA Release by Reducing Fatty Acid Oxidation in Cortex.

Mol Neurobiol 2018 Sep 2;55(9):7216-7228. Epub 2018 Feb 2.

Department of Biochemistry and Physiology, Facultat de Farmàcia i Ciències de l'Alimentació and Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Av. Joan XXIII, 27-30, E-08028, Barcelona, Spain.

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September 2018

Neonatal Screening for Inherited Metabolic Diseases in 2016.

Semin Pediatr Neurol 2016 11 16;23(4):257-272. Epub 2016 Nov 16.

From the Seccción de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital ClinicHospital Clínic, CIBERER, IDIBAPS, Barcelona, Spain. Electronic address:

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November 2016

Small molecules as therapeutic agents for inborn errors of metabolism.

J Inherit Metab Dis 2017 03 13;40(2):177-193. Epub 2016 Dec 13.

Secció Errors Congènits del Metabolisme-IBC. Servei de Bioquímica i Genètica Molecular, Hospital Clínic, CIBERER-U737; IDIBAPS, C/ Mejía Lequerica s/n, 08028, Barcelona, Spain.

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March 2017

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Pediatrics 2016 11 18;138(5). Epub 2016 Oct 18.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain; and

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November 2016

Differential diagnosis of lipoic acid synthesis defects.

J Inherit Metab Dis 2016 11 1;39(6):781-793. Epub 2016 Sep 1.

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

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November 2016

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.

J Lipid Res 2015 Oct 3;56(10):1926-35. Epub 2015 Aug 3.

Sección de Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Institut d'Investigacions Biomèdiques Pi i Sunyer (IDIBAPS), and Ciber Enfermedades Raras (CIBERER) Instituto de Salud Carlos III, Hospital Clinic, Barcelona, Spain.

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October 2015

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons.

Neurotherapeutics 2015 Oct;12(4):874-86

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.

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October 2015

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

J Inherit Metab Dis 2015 Nov 12;38(6):1007-19. Epub 2015 Mar 12.

Laboratory Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany.

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November 2015

Erratum to: 12th international congress of inborn errors of metabolism, 3rd-6th September, 2013.

J Inherit Metab Dis 2015 May;38(3):581

Neurology Department, Hospital Sant Joan de Deu, Barcelona, Spain,

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May 2015

12th International Congress of Inborn Errors of Metabolism, 3rd-6th September, 2013.

J Inherit Metab Dis 2014 Jul;37(4):481

Neurology Department, Hospital Sant Joan de Deu, Barcelona, Spain,

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July 2014

Fatty acid transport protein 1 (FATP1) localizes in mitochondria in mouse skeletal muscle and regulates lipid and ketone body disposal.

PLoS One 2014 23;9(5):e98109. Epub 2014 May 23.

Departament de Bioquímica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona (UB), Institut de Biomedicina de la UB, Barcelona, Spain; CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Spain.

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February 2015

Lipoic acid biosynthesis defects.

J Inherit Metab Dis 2014 Jul 29;37(4):553-63. Epub 2014 Apr 29.

Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria,

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July 2014

Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.

J Inherit Metab Dis 2014 May 18;37(3):439-46. Epub 2013 Dec 18.

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

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May 2014

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Orphanet J Rare Dis 2013 Jul 10;8:102. Epub 2013 Jul 10.

Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago, Santiago de Compostela, Spain.

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July 2013

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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January 2014

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Mol Genet Metab 2013 Sep-Oct;110(1-2):73-7. Epub 2013 May 3.

Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, 08028, Barcelona, Spain.

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March 2014

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

Mol Genet Metab 2013 Apr 4;108(4):232-40. Epub 2013 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, E-50009 Zaragoza, Spain.

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April 2013

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Eur J Paediatr Neurol 2013 Jul 5;17(4):383-9. Epub 2013 Feb 5.

Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago, Santiago de Compostela, Spain.

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July 2013

Role of creatine as biomarker of mitochondrial diseases.

Mol Genet Metab 2013 Feb 3;108(2):119-24. Epub 2012 Dec 3.

Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, CIBERER, IDIBAPS, Barcelona, Spain.

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February 2013

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

J Inherit Metab Dis 2013 Sep 22;36(5):841-7. Epub 2012 Nov 22.

Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, 08028 Barcelona, Spain.

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September 2013

Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry.

Clin Biochem 2013 Feb 15;46(3):271-4. Epub 2012 Oct 15.

Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic. CIBER de enfermedades raras (CIBERER), IDIBAPS, Barcelona, Spain.

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February 2013

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Mol Genet Metab 2012 Nov 31;107(3):409-15. Epub 2012 Aug 31.

Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clinic, Instituto de Investigación Biomédica Pi Sunyer, 08028 Barcelona, Spain.

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November 2012

Discovery of a novel noniminosugar acid α glucosidase chaperone series.

J Med Chem 2012 Sep 17;55(17):7546-59. Epub 2012 Aug 17.

NIH Chemical Genomics Center, NIH Center for Translational Therapeutics, National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Rockville, Maryland 20850, USA.

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September 2012

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.

Pediatrics 2012 Feb 23;129(2):e535-9. Epub 2012 Jan 23.

Metabolic Diseases Unit, Pediatric Neurology Department, Hospital Universitario Son Dureta, Palma de Mallorca, Spain.

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February 2012

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.

JIMD Rep 2011 22;1:125-9. Epub 2011 Jun 22.

Sección de Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, Spain.

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February 2013

Defining the pathogenicity of creatine deficiency syndrome.

Hum Mutat 2011 Mar 8;32(3):282-91. Epub 2011 Feb 8.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular "Severo Ochoa" CSIC-UAM, Departamento de Biología Molecular, Universidad Autónoma de Madrid, Spain.

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March 2011

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Eur J Hum Genet 2010 Dec 28;18(12):1353-5. Epub 2010 Jul 28.

Sección de Errores Congénitos del Metabolismo (IBC), Servicio de Bioquímica y Genética Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain.

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December 2010

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

J Inherit Metab Dis 2010 Dec 21;33 Suppl 3:S315-9. Epub 2010 Jul 21.

Sección de Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Instituto de Bioquímica Clínica, Barcelona, Spain.

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December 2010

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

J Inherit Metab Dis 2010 Dec 8;33 Suppl 3:S293-6. Epub 2010 Jul 8.

Sección de Errores Congénitos del Metabolismo, IBC, Servicio de Bioquímica y Genética Molecular and CIBER de Enfermedades Raras, Hospital Clínic, Edificio Helios III, 08028 Barcelona, Spain.

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December 2010

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

J Inherit Metab Dis 2010 Aug 8;33(4):405-10. Epub 2010 Jun 8.

Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/ Domingo Miral s/n, 50009, Zaragoza, Spain.

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August 2010

Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolites.

J Biol Chem 2010 Jun 5;285(24):18217-24. Epub 2010 Apr 5.

Department of Brain Ischemia and Neurodegeneration, Institute of Biomedical Research of Barcelona, Consejo Superior de Investigaciones Científicas, Institut d'Investigacions Biomèdiques August Pi i Sunyer, 08036 Barcelona, Spain.

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June 2010

[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].

Med Clin (Barc) 2009 Nov 5;133(19):745-9. Epub 2009 Nov 5.

Neuropediatría, Hospital Sant Joan de Déu y Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues de Llobregat, Barcelona, España.

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November 2009

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Hum Mutat 2009 Nov;30(11):1558-66

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-Severo Ochoa (SO) Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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November 2009

Predictive value of combined amniotic fluid proteomic biomarkers and interleukin-6 in preterm labor with intact membranes.

Am J Obstet Gynecol 2009 May;200(5):499.e1-6

Department of Maternal-Fetal Medicine, Institut de Investigacions Biomèdiques August Pi-Sunyer, Hospital Clínic, University of Barcelona, Barcelona, Spain.

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May 2009

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

Eur J Paediatr Neurol 2009 Nov 22;13(6):534-40. Epub 2009 Jan 22.

Department of Neurology and Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Hospital Sant Joan de Déu, Barcelona, Spain.

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November 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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March 2009

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

Mol Genet Metab 2008 Jun 10;94(2):234-9. Epub 2008 Mar 10.

Division of Inborn Errors of Metabolism (IBC), Department of Biochemistry and Molecular Genetics, Hospital Clinic and CIBERER, Edifici Helios III, planta baja, C/ Mejía Lequerica s/n, 08028 Barcelona, Spain.

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June 2008

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Mol Genet Metab 2008 Jun 21;94(2):173-7. Epub 2008 Feb 21.

Departments of Clinical Biochemistry and Neurology, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain.

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June 2008

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

Clin Biochem 2007 Nov 10;40(16-17):1328-31. Epub 2007 Aug 10.

Institut de Bioquímica Clínica, Servicio de Bioquímica y Genética Molecular, Hospital Clínic and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain.

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November 2007

Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Pediatr Neurol 2007 Apr;36(4):264-7

Neuropediatric Unit, Hospital Virgen de la Salud, Toledo, Spain.

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April 2007

Methods for the diagnosis of creatine deficiency syndromes: a comparative study.

J Neurosci Methods 2006 Sep 18;156(1-2):305-9. Epub 2006 Apr 18.

Servei de Bioquímica, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain.

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September 2006

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

Mol Genet Metab 2004 Jul;82(3):220-3

Instituto de Bioquímica Clínica, Corporació Sanitària Clinic, Barcelona, Spain.

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July 2004