Publications by authors named "Judit García-Villoria"

44Publications

[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]

Rev Esp Salud Publica 2020 Dec 16;94. Epub 2020 Dec 16.

Unidad de Patología Infecciosa e Inmunodeficiencias de Pediatría. Hospital Universitari Vall d'Hebron. Institut de Recerca Vall d'Hebron. Centro Jeffrey Modell para el diagnóstico e investigación en inmunodeficiencias primarias. Universitat Autónoma de Barcelona. Barcelona. España.

View Article and Find Full Text PDF
December 2020

[50 years of the Neonatal Screening Program in Catalonia.]

Rev Esp Salud Publica 2020 Dec 16;94. Epub 2020 Dec 16.

Agencia de Salut Pública. Departament de Salut de la Generalitat de Catalunya. Barcelona. España.

View Article and Find Full Text PDF
December 2020

[Response of the Catalonia neonatal screening laboratory to the pandemic of SARS-CoV-2.]

Rev Esp Salud Publica 2020 Dec 16;94. Epub 2020 Dec 16.

Sección de Errores Congénitos del Metabolismo-IBC. Servicio de Bioquímica y Genética Molecular. Centro de Diagnóstico Biomédico. Hospital Clínic de Barcelona. Barcelona.

View Article and Find Full Text PDF
December 2020

[Analysis of the implementation of a unified transportation system of the neonatal screening samples in Catalonia.]

Rev Esp Salud Publica 2020 Dec 16;94. Epub 2020 Dec 16.

Programa de Cribado Neonatal de Cataluña. Subdirección General de Promoción de la Salud. Agencia de Salud Pública de Cataluña. Departamento de Salud. Barcelona. España.

View Article and Find Full Text PDF
December 2020

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:

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
November 2020

Analytical performance specifications based on the state-of-the-art for the newborn screening.

Clin Chim Acta 2020 Nov 9;510:117-120. Epub 2020 Jul 9.

Quality Department. Biomedical Diagnostic Center. Hospital Clínic of Barcelona. Electronic address:

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
March 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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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.

View Article and Find Full Text PDF
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:

View Article and Find Full Text PDF
November 2016

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

View Article and Find Full Text PDF
November 2016

Apo AIV and Citrulline Plasma Concentrations in Short Bowel Syndrome Patients: The Influence of Short Bowel Anatomy.

PLoS One 2016;11(9):e0163762. Epub 2016 Sep 30.

Unitat de Nutrició i Dietètica, Servei d'Endocrinologia i Nutrició, Hospital Universitari de Bellvitge (HUB), IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

View Article and Find Full Text PDF
September 2016

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

Nefrologia 2016 Nov - Dec;36(6):616-630. Epub 2016 Aug 30.

Grupo de Trabajo multidisciplinar para el tratamiento de los pacientes con cistinosis y su transición desde las unidades pediátricas a las de adultos, Barcelona, España.

View Article and Find Full Text PDF
April 2018