Publications Authored by Belen Pérez-Dueñas

Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

Authors:

Joana Martins Alejandra Darling Cristina Garrido Carmen Espinós María José Martí Belen Pérez Dueñas Teresa Temudo

Mov Disord Clin Pract 2019 Nov 25;6(8):704-707. Epub 2019 Oct 25.

Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal.

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http://dx.doi.org/10.1002/mdc3.12842	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856458	PMC

November 2019

The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.

Authors:

Thomas Klopstock Maria L Escolar Randall D Marshall Belen Perez-Dueñas Sarah Tuller Aleksandar Videnovic Feriandas Greblikas

Clin Trials 2019 Aug 6;16(4):410-418. Epub 2019 May 6.

8 Research & Development, Retrophin, Inc., San Diego, CA, USA.

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http://dx.doi.org/10.1177/1740774519845673	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661719	PMC

August 2019

Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

Authors:

Anna Marcé-Grau Laura Martí-Sánchez Heidy Baide-Mairena Juan D Ortigoza-Escobar Belén Pérez-Dueñas

J Inherit Metab Dis 2019 Jul 24;42(4):581-597. Epub 2019 Jun 24.

Pediatric Neurology Research Group, Hospital Vall d'Hebron and Research Institute (VHIR), Barcelona, Spain.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12125	Publisher Site
http://dx.doi.org/10.1002/jimd.12125	DOI Listing

July 2019

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.

Eur J Paediatr Neurol 2019 May 14;23(3):427-437. Epub 2019 Feb 14.

First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.02.001	DOI Listing

May 2019

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

Parkinsonism Relat Disord 2019 04 13;61:179-186. Epub 2018 Oct 13.

Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183044	Publisher Site
http://dx.doi.org/10.1016/j.parkreldis.2018.10.013	DOI Listing

April 2019

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

Authors:

Antonio Martinez-Monseny Daniel Cuadras Mercè Bolasell Jordi Muchart César Arjona Mar Borregan Adi Algrabli Raquel Montero Rafael Artuch Ramón Velázquez-Fragua Alfons Macaya Celia Pérez-Cerdá Belén Pérez-Dueñas Belén Pérez Mercedes Serrano

J Med Genet 2019 Apr 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-2018-105588	DOI Listing

April 2019

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.

Authors:

Anna Marcé-Grau Marta Correa Maria Isabel Vanegas Teresa Muñoz-Ruiz Silvia Ferrer-Aparicio Heidy Baide Alfons Macaya Belén Pérez-Dueñas

Parkinsonism Relat Disord 2019 04 8;61:7-9. Epub 2019 Jan 8.

Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Faculty of Medicine, Universitat Autònoma de Barcelona, Unitat Docent Vall d'Hebròn, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020193000	Publisher Site
http://dx.doi.org/10.1016/j.parkreldis.2019.01.004	DOI Listing

April 2019

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Authors:

Heidy Baide-Mairena Paula Gaudó Laura Marti-Sánchez Sonia Emperador Angel Sánchez-Montanez Olga Alonso-Luengo Marta Correa Anna Marcè Grau Juan Darío Ortigoza-Escobar Rafael Artuch Elida Vázquez Mireia Del Toro Nuria Garrido-Pérez Eduardo Ruiz-Pesini Julio Montoya María Pilar Bayona-Bafaluy Belén Pérez-Dueñas

Mol Genet Metab 2019 03 5;126(3):250-258. Epub 2019 Jan 5.

Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183069	Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2019.01.001	DOI Listing

March 2019

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

J Clin Med 2019 Jan 10;8(1). Epub 2019 Jan 10.

Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain.

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http://www.mdpi.com/2077-0383/8/1/68	Publisher Site
http://dx.doi.org/10.3390/jcm8010068	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352184	PMC

January 2019

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

Authors:

Dídac Casas-Alba Antonio Martínez-Monseny Rosa M Pino-Ramírez Laia Alsina Esperanza Castejón Sergi Navarro-Vilarrubí Belén Pérez-Dueñas Mercedes Serrano Francesc Palau Alfredo García-Alix

Hum Mutat 2018 12 17;39(12):1752-1763. Epub 2018 Sep 17.

Department of Genetic and Molecular Medicine, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23638	DOI Listing

December 2018

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

Authors:

Débora Itzep Antonio F Martínez-Monseny Mercè Bolasell Daniel Cuadras Ramón Velázquez-Fragua Luis G Gutierrez-Solana Alfons Macaya Belén Pérez-Dueñas Mercedes Serrano

Neuropediatrics 2018 12 10;49(6):408-413. Epub 2018 Oct 10.

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

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673332	Publisher Site
http://dx.doi.org/10.1055/s-0038-1673332	DOI Listing

December 2018

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.

Authors:

Santiago Candela María Isabel Vanegas Alejandra Darling Juan Darío Ortigoza-Escobar Mariana Alamar Jordi Muchart Alejandra Climent Enrique Ferrer Jordi Rumià Belén Pérez-Dueñas

J Neurosurg Pediatr 2018 Oct 20;22(4):416-425. Epub 2018 Jul 20.

Neuropediatrics, and.

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http://thejns.org/doi/10.3171/2018.5.PEDS1814	Publisher Site
http://dx.doi.org/10.3171/2018.5.PEDS1814	DOI Listing

October 2018

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

Authors:

André B P van Kuilenburg Judith Meijer Rutger Meinsma Belén Pérez-Dueñas Marielle Alders Zahurul A Bhuiyan Rafael Artuch Raoul C M Hennekam

JIMD Rep 2019 23;45:65-69. Epub 2018 Oct 23.

Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/8904_2018_138	Publisher Site
http://dx.doi.org/10.1007/8904_2018_138	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675	PMC

October 2018

Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Authors:

Davide Tonduti Celeste Panteghini Anna Pichiecchio Alice Decio Miryam Carecchio Chiara Reale Isabella Moroni Nardo Nardocci Jaume Campistol Angela Garcia-Cazorla Belen Perez Duenas Luisa Chiapparini Barbara Garavaglia Simona Orcesi

Orphanet J Rare Dis 2018 08 16;13(1):135. Epub 2018 Aug 16.

Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1186/s13023-018-0854-y	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094574	PMC

August 2018

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.

Authors:

Vincenzo Salpietro Belen Perez-Dueñas Kosuke Nakashima Victoria San Antonio-Arce Andreea Manole Stephanie Efthymiou Jana Vandrovcova Conceicao Bettencourt Niccolò E Mencacci Christine Klein Michy P Kelly Ceri H Davies Haruhide Kimura Alfons Macaya Henry Houlden

Mov Disord 2018 03 2;33(3):482-488. Epub 2018 Feb 2.

Department of Molecular Neuroscience, University College of London, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.27286	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873427	PMC

March 2018

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Int J Mol Sci 2018 Feb 22;19(2). Epub 2018 Feb 22.

Genetic Medicine and Rare Diseases Pediatric Institute, Hospital Sant Joan de Déu, 08002 Barcelona, Spain.

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http://dx.doi.org/10.3390/ijms19020619	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855841	PMC

February 2018

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

Mov Disord 2017 Nov 28;32(11):1620-1630. Epub 2017 Aug 28.

Unit of Pediatric Movement Disorders, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.27129	DOI Listing

November 2017

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

Authors:

Víctor de Diego Antonio F Martínez-Monseny Jordi Muchart Daniel Cuadras Raquel Montero Rafael Artuch Celia Pérez-Cerdá Belén Pérez Belén Pérez-Dueñas Andrea Poretti Mercedes Serrano

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/s10545-017-0028-4	DOI Listing

September 2017

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

Authors:

Víctor de Diego Antonio F Martínez-Monseny Jordi Muchart Daniel Cuadras Raquel Montero Rafael Artuch Celia Pérez-Cerdá Belén Pérez Belén Pérez-Dueñas Andrea Poretti Mercedes Serrano

J Inherit Metab Dis 2017 09;40(5):753-754

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

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http://dx.doi.org/10.1007/s10545-017-0056-0	DOI Listing

September 2017

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

Authors:

Juan Darío Ortigoza-Escobar Majid Alfadhel Marta Molero-Luis Niklas Darin Ronen Spiegel Irenaeus F de Coo Mike Gerards Robert W Taylor Rafael Artuch Marwan Nashabat Pilar Rodríguez-Pombo Brahim Tabarki Belén Pérez-Dueñas

Ann Neurol 2017 Sep 30;82(3):317-330. Epub 2017 Aug 30.

Division of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ana.24998	DOI Listing

September 2017

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Authors:

Natalia Lourdes Serrano Victor De Diego Daniel Cuadras Antonio F Martinez Monseny Ramón Velázquez-Fragua Laura López Ana Felipe Luis G Gutiérrez-Solana Alfons Macaya Belén Pérez-Dueñas Mercedes Serrano

Orphanet J Rare Dis 2017 09 15;12(1):155. Epub 2017 Sep 15.

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

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http://dx.doi.org/10.1186/s13023-017-0707-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602850	PMC

September 2017

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Authors:

Dèlia Yubero Núria Brandi Aida Ormazabal Àngels Garcia-Cazorla Belén Pérez-Dueñas Jaime Campistol Antonia Ribes Francesc Palau Rafael Artuch Judith Armstrong

PLoS One 2016 31;11(5):e0156359. Epub 2016 May 31.

Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0156359	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887012	PMC

July 2017

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

Authors:

Roberto García-López María Eugenia de la Morena-Barrio Laia Alsina Belén Pérez-Dueñas Jaak Jaeken Mercedes Serrano Mercedes Casado Trinidad Hernández-Caselles

PLoS One 2016 14;11(7):e0158863. Epub 2016 Jul 14.

Departamento de Bioquímica, Biología Molecular B e Inmunología, Facultad de Medicina, IMIB-University of Murcia, Murcia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158863	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944953	PMC

July 2017

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Authors:

Gillian I Rice Naoki Kitabayashi Magalie Barth Tracy A Briggs Annabel C E Burton Maria Luisa Carpanelli Alfredo M Cerisola Cindy Colson Russell C Dale Federica Rachele Danti Niklas Darin Begoña De Azua Valentina De Giorgis Christian G L De Goede Isabelle Desguerre Corinne De Laet Atieh Eslahi Michael C Fahey Penny Fallon Alex Fay Elisa Fazzi Mark P Gorman Nirmala Rani Gowrinathan Marie Hully Manju A Kurian Nicolas Leboucq Jean-Pierre S-M Lin Matthew A Lines Soe S Mar Reza Maroofian Laura Martí-Sanchez Gary McCullagh Majid Mojarrad Vinodh Narayanan Simona Orcesi Juan Dario Ortigoza-Escobar Belén Pérez-Dueñas Florence Petit Keri M Ramsey Magnhild Rasmussen François Rivier Pilar Rodríguez-Pombo Agathe Roubertie Tommy I Stödberg Mehran Beiraghi Toosi Annick Toutain Florence Uettwiller Nicole Ulrick Adeline Vanderver Amy Waldman John H Livingston Yanick J Crow

Neuropediatrics 2017 Jun 10;48(3):166-184. Epub 2017 Apr 10.

Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1601449	Publisher Site
http://dx.doi.org/10.1055/s-0037-1601449	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985975	PMC

June 2017

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:

Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969b	DOI Listing

May 2017

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Authors:

Celia Pérez-Cerdá Ma Luisa Girós Mercedes Serrano M Jesús Ecay Laura Gort Belén Pérez Dueñas Celia Medrano Alfredo García-Alix Rafael Artuch Paz Briones Belén Pérez

J Pediatr 2017 04 27;183:170-177.e1. Epub 2017 Jan 27.

Center of Molecular Biology-Severo Ochoa, University Autonomous of Madrid-Spanish National Research Council, La Paz Institute for Health Research, Center for Biomedical Research on Rare Diseases, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jpeds.2016.12.060	DOI Listing

April 2017

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Authors:

Esther Meyer Keren J Carss Julia Rankin John M E Nichols Detelina Grozeva Agnel P Joseph Niccolo E Mencacci Apostolos Papandreou Joanne Ng Serena Barral Adeline Ngoh Hilla Ben-Pazi Michel A Willemsen David Arkadir Angela Barnicoat Hagai Bergman Sanjay Bhate Amber Boys Niklas Darin Nicola Foulds Nicholas Gutowski Alison Hills Henry Houlden Jane A Hurst Zvi Israel Margaret Kaminska Patricia Limousin Daniel Lumsden Shane McKee Shibalik Misra Shekeeb S Mohammed Vasiliki Nakou Joost Nicolai Magnus Nilsson Hardev Pall Kathryn J Peall Gregory B Peters Prab Prabhakar Miriam S Reuter Patrick Rump Reeval Segel Margje Sinnema Martin Smith Peter Turnpenny Susan M White Dagmar Wieczorek Sarah Wiethoff Brian T Wilson Gidon Winter Christopher Wragg Simon Pope Simon J H Heales Deborah Morrogh Alan Pittman Lucinda J Carr Belen Perez-Dueñas Jean-Pierre Lin Andre Reis William A Gahl Camilo Toro Kailash P Bhatia Nicholas W Wood Erik-Jan Kamsteeg Wui K Chong Paul Gissen Maya Topf Russell C Dale Jonathan R Chubb F Lucy Raymond Manju A Kurian

Nat Genet 2017 Feb 19;49(2):223-237. Epub 2016 Dec 19.

Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ng.3740	DOI Listing

February 2017

A framework for paediatric neuromodulation - Recognising the challenges and a platform for data sharing.

Authors:

Shekeeb S Mohammad Belen Perez Duenas

Eur J Paediatr Neurol 2017 01 7;21(1):18-19. Epub 2016 Dec 7.

Pediatric Neurology Departments, Hospital Sant Joan de Deu and CIBERER, ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejpn.2016.11.009	DOI Listing

January 2017

Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.

Authors:

Juan Darío Ortigoza Escobar Belén Pérez Dueñas

Semin Pediatr Neurol 2016 11 9;23(4):341-350. Epub 2016 Nov 9.

Department of Child Neurology, Pediatric Research Institute, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2016.11.008	DOI Listing

November 2016

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

Authors:

Roberto García-López María Eugenia de la Morena-Barrio Laia Alsina Belén Pérez-Dueñas Jaak Jaeken Mercedes Serrano Mercedes Casado Trinidad Hernández-Caselles

PLoS One 2016;11(10):e0165901. Epub 2016 Oct 27.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165901	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082832	PMC

October 2016

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Authors:

Delia Yubero Raquel Montero Miguel A Martín Julio Montoya Antonia Ribes Manuela Grazina Eva Trevisson Juan Carlos Rodriguez-Aguilera Iain P Hargreaves Leonardo Salviati Plácido Navas Rafael Artuch Cristina Jou Cecilia Jimenez-Mallebrera Andres Nascimento Belén Pérez-Dueñas Carlos Ortez Federico Ramos Jaume Colomer Mar O'Callaghan Mercè Pineda Angels García-Cazorla Carmina Espinós Angels Ruiz Alfons Macaya Anna Marcé-Grau Judit Garcia-Villoria Angela Arias Sonia Emperador Eduardo Ruiz-Pesini Ester Lopez-Gallardo Viruna Neergheen Marta Simões Luisa Diogo Alberto Blázquez Adrián González-Quintana Aitor Delmiro Cristina Domínguez-González Joaquín Arenas M Teresa García-Silva Elena Martín Pilar Quijada Aurelio Hernández-Laín María Morán Eloy Rivas Infante Rainiero Ávila Polo Carmen Paradas Lópe Juan Bautista Lorite Eva M Martínez Fernández Ana B Cortés Ana Sánchez-Cuesta Maria V Cascajo María Alcázar Gloria Brea-Calvo

Mitochondrion 2016 09 30;30:51-8. Epub 2016 Jun 30.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain; Genetics and Genomics of Neuromuscular Disorders Unit, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.

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http://dx.doi.org/10.1016/j.mito.2016.06.007	DOI Listing

September 2016

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

PLoS One 2016 11;11(2):e0148709. Epub 2016 Feb 11.

Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain, Instituto de Salud Carlos III, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0148709	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750949	PMC

July 2016

Phenotypic insights into ADCY5-associated disease.

Mov Disord 2016 07 8;31(7):1033-40. Epub 2016 Apr 8.

Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, Australia.

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http://dx.doi.org/10.1002/mds.26598	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950003	PMC

July 2016

Treatment of genetic defects of thiamine transport and metabolism.

Authors:

Juan Darío Ortigoza-Escobar Marta Molero-Luis Angela Arias Laura Martí-Sánchez Pilar Rodriguez-Pombo Rafael Artuch Belén Pérez-Dueñas

Expert Rev Neurother 2016 07 23;16(7):755-63. Epub 2016 May 23.

a Department of Child Neurology, Hospital Sant Joan de Déu , University of Barcelona , Barcelona , Spain.

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http://dx.doi.org/10.1080/14737175.2016.1187562	DOI Listing

July 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244	PMC

May 2016

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

Authors:

Juan Darío Ortigoza-Escobar Alfonso Oyarzabal Raquel Montero Rafael Artuch Cristina Jou Cecilia Jiménez Laura Gort Paz Briones Jordi Muchart Ester López-Gallardo Sonia Emperador Eduardo Ruiz Pesini Julio Montoya Belén Pérez Pilar Rodríguez-Pombo Belén Pérez-Dueñas

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.2016.04.001	DOI Listing

May 2016

Clinical, etiological and therapeutic aspects of cerebral folate deficiency.

Authors:

Marta Molero-Luis Mercedes Serrano Maria M O'Callaghan Cristina Sierra Belén Pérez-Dueñas Angels García-Cazorla Rafael Artuch

Expert Rev Neurother 2015 19;15(7):793-802. Epub 2015 Jun 19.

Clinical Biochemistry, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1586/14737175.2015.1055322	DOI Listing

March 2016

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Authors:

Juan Darío Ortigoza-Escobar Marta Molero-Luis Angela Arias Alfonso Oyarzabal Niklas Darín Mercedes Serrano Angels Garcia-Cazorla Mireia Tondo María Hernández Judit Garcia-Villoria Mercedes Casado Laura Gort Johannes A Mayr Pilar Rodríguez-Pombo Antonia Ribes Rafael Artuch Belén Pérez-Dueñas

Brain 2016 Jan 10;139(Pt 1):31-8. Epub 2015 Dec 10.

1 Department of Child Neurology, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain 4 Centre for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain

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http://brain.oxfordjournals.org/content/brain/early/2015/12/	Web Search
http://dx.doi.org/10.1093/brain/awv342	DOI Listing

January 2016

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Orphanet J Rare Dis 2015 Oct 26;10:138. Epub 2015 Oct 26.

Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), 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/s13023-015-0358-y	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623922	PMC

October 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:

Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202	PMC

February 2015

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

Authors:

Mercedes Casado Laura Altimira Raquel Montero Esperanza Castejón Andrés Nascimento Belén Pérez-Dueñas Aida Ormazabal Rafael Artuch

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	Web Search
http://link.springer.com/10.1007/s00216-014-7832-6	Publisher Site
http://dx.doi.org/10.1007/s00216-014-7832-6	DOI Listing

July 2014

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Authors:

Juan Darío Ortigoza-Escobar Mercedes Serrano Marta Molero Alfonso Oyarzabal Mónica Rebollo Jordi Muchart Rafael Artuch Pilar Rodríguez-Pombo Belén Pérez-Dueñas

Orphanet J Rare Dis 2014 Jun 23;9:92. Epub 2014 Jun 23.

Department of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Passeig Sant Joan de Déu, 2, Esplugues, Barcelona 08950, Spain.

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http://dx.doi.org/10.1186/1750-1172-9-92	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099387	PMC

June 2014

Paroxysmal movement disorders and episodic ataxias.

Authors:

Emilio Fernández-Alvarez Belén Perez-Dueñas

Handb Clin Neurol 2013 ;112:847-52

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

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http://dx.doi.org/10.1016/B978-0-444-52910-7.00004-0	DOI Listing

March 2014

Environmental circumstances influencing tic expression in children.

Authors:

Belén Caurín Mercedes Serrano Emilio Fernández-Alvarez Jaume Campistol Belén Pérez-Dueñas

Eur J Paediatr Neurol 2014 Mar 27;18(2):157-62. Epub 2013 Oct 27.

Department of Child Neurology, Hospital Sant Joan de Déu, Universitat de Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2013.10.002	DOI Listing

March 2014

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Authors:

Mireia Tondo Eduardo Calpena Gema Arriola Paloma Sanz Loreto Martorell Aida Ormazabal Esperanza Castejon Manuel Palacin Magdalena Ugarte Carmen Espinos Belen Perez Belen Perez-Dueñas Celia Pérez-Cerda Rafael Artuch

Mol Genet Metab 2013 Nov 6;110(3):231-6. Epub 2013 Jul 6.

Inborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.06.021	DOI Listing

November 2013

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.

Authors:

Maria E de la Morena-Barrio Trinidad Hernández-Caselles Javier Corral Roberto García-López Irene Martínez-Martínez Belen Pérez-Dueñas Carmen Altisent Teresa Sevivas Soren R Kristensen Encarna Guillén-Navarro Antonia Miñano Vicente Vicente Jaak Jaeken Maria L Lozano

Orphanet J Rare Dis 2013 Oct 20;8:170. Epub 2013 Oct 20.

Centro Regional de Hemodonación Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Universidad de Murcia, Ronda de Garay S/N, 30003 Murcia, Spain.

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http://dx.doi.org/10.1186/1750-1172-8-170	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016514	PMC

October 2013

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

Authors:

Marta Molero-Luis Mercedes Serrano Aida Ormazábal Belén Pérez-Dueñas Angels García-Cazorla Roser Pons Rafael Artuch

Dev Med Child Neurol 2013 Jun 11;55(6):559-66. Epub 2013 Mar 11.

Neurometabolic Unit, Hospital Sant Joan de Déu and Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1111/dmcn.12116	DOI Listing

June 2013

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

Authors:

Belén Pérez-Dueñas Mercedes Serrano Mónica Rebollo Jordi Muchart Eva Gargallo Celine Dupuits Rafael Artuch

Pediatrics 2013 May 15;131(5):e1670-5. Epub 2013 Apr 15.

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

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http://dx.doi.org/10.1542/peds.2012-2988	DOI Listing

May 2013

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects.

Authors:

Mercedes Serrano Belén Pérez-Dueñas Julio Montoya Aida Ormazabal Rafael Artuch

Drug Discov Today 2012 Dec 23;17(23-24):1299-306. Epub 2012 Jul 23.

Neuropediatrics and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases (CIBERER-ISCIII), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.drudis.2012.07.008	DOI Listing

December 2012

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Authors:

Mercedes Serrano Mónica Rebollo Christel Depienne Agnès Rastetter Emilio Fernández-Álvarez Jordi Muchart Loreto Martorell Rafael Artuch José A Obeso Belén Pérez-Dueñas

Mov Disord 2012 Sep 6;27(10):1295-8. Epub 2012 Jul 6.

Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.25008	DOI Listing

September 2012

Novel features in the evolution of adenylosuccinate lyase deficiency.

Authors:

Belén Pérez-Dueñas Angela Sempere Jaume Campistol Itziar Alonso-Colmenero María Díez Verónica González Begoña Merinero Lourdes R Desviat Rafael Artuch

Eur J Paediatr Neurol 2012 Jul 7;16(4):343-8. Epub 2011 Sep 7.

Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Dèu 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejpn.2011.08.008	DOI Listing

July 2012

Neonatal erythroderma as a first manifestation of Menkes disease.

Authors:

Javier Galve Asunción Vicente María Antonia González-Enseñat Belén Pérez-Dueñas Victoria Cusí Lisbeth Birk Møller Marc Julià Anna Domínguez Juan Ferrando

Pediatrics 2012 Jul 18;130(1):e239-42. Epub 2012 Jun 18.

Department of Dermatology, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1542/peds.2011-1558	DOI Listing

July 2012

Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

Authors:

Silvia Marín Paula Casano-Sancho Nancy Villarreal-Peña Giorgia Sebastiani Sergio Pinillos Belén Pérez-Dueñas Vivian Hwa Ron G Rosenfeld Lourdes Ibáñez

Horm Res Paediatr 2012 21;77(1):63-8. Epub 2012 Jan 21.

Endocrinology Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1159/000335235	DOI Listing

June 2012

Human Metapneumovirus in the Cerebrospinal Fluid of a Patient With Acute Encephalitis.

Authors:

Iván Sánchez Fernández Mónica Rebollo Polo Carmen Muñoz-Almagro Laura Monfort Carretero Sergio Fernández Ureña Adela Rueda Muñoz Roser Colomé Roura Belén Pérez Dueñas

Arch Neurol 2012 May;69(5):649-52

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

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http://dx.doi.org/10.1001/archneurol.2011.1094	DOI Listing

May 2012

Cloperastine-based cough syrup and acute dystonic reactions.

Authors:

Mercedes Serrano Mario Sanz-Cuesta Miquel Villaronga Luis Frontado Hayek Belén Perez-Dueñas

Dev Med Child Neurol 2012 Mar;54(3):287

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http://dx.doi.org/10.1111/j.1469-8749.2011.04105.x	DOI Listing

March 2012

Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency.

Authors:

Aida Ormazábal Belén Perez-Dueñas Cristina Sierra Roser Urreitzi Julio Montoya Mercedes Serrano Jaume Campistol Angels García-Cazorla Mercé Pineda Rafael Artuch

Clin Biochem 2011 Jun 22;44(8-9):719-21. Epub 2011 Mar 22.

Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2011.03.002	DOI Listing

June 2011

Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

Authors:

Belén Pérez-Dueñas Aida Ormazábal Claudio Toma Barbara Torrico Bru Cormand Mercedes Serrano Cristina Sierra Elisa De Grandis Merce Pineda Marfa Angels García-Cazorla Jaime Campistol Juan M Pascual Rafael Artuch

Arch Neurol 2011 May;68(5):615-21

Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1001/archneurol.2011.80	DOI Listing

May 2011

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.

Authors:

Mireia Tondo Nilo Lambruschini Lilianne Gomez-Lopez Alejandra Gutierrez Juan Moreno Angels García-Cazorla Belén Pérez-Dueñas Mercé Pineda Jaume Campistol Maria A Vilaseca Rafael Artuch

J Inherit Metab Dis 2010 Dec 6;33 Suppl 3:S43-9. Epub 2010 Jan 6.

Inborn Errors of Metabolism Unit, Clinical Biochemistry, Gastroenterology and Nutrition Departments, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-009-9015-8	DOI Listing

December 2010

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

Authors:

Elisa De Grandis Mercedes Serrano Belén Pérez-Dueñas Aida Ormazábal Raquel Montero Edvige Veneselli Mercè Pineda Verónica González Francesc Sanmartí Carmen Fons Anna Sans Bru Cormand Luis Puelles Antonia Alonso Jaime Campistol Rafael Artuch Angels García-Cazorla

J Inherit Metab Dis 2010 Dec 18;33(6):803-9. Epub 2010 Sep 18.

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

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http://www.ub.edu/geneticaclasses/brucormand/pdfs/63.pdf	Web Search
http://link.springer.com/10.1007/s10545-010-9200-9	Publisher Site
http://dx.doi.org/10.1007/s10545-010-9200-9	DOI Listing

December 2010

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

Authors:

Belén Pérez-Dueñas Claudio Toma Aida Ormazábal Jordi Muchart Francesc Sanmartí Georgina Bombau Mercedes Serrano Angels García-Cazorla Bru Cormand Rafael Artuch

J Inherit Metab Dis 2010 Dec 21;33(6):795-802. Epub 2010 Sep 21.

Departament of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Dèu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-010-9196-1	DOI Listing

December 2010

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

Authors:

Mercedes Serrano Cecilia Martins Belén Pérez-Dueñas Lilian Gómez-López Empar Murgui Carmen Fons Angels García-Cazorla Rafael Artuch Fernando Jara José A Arranz Johannes Häberle Paz Briones Jaume Campistol Mercedes Pineda Maria A Vilaseca

J Child Neurol 2010 Mar 14;25(3):352-8. Epub 2009 Aug 14.

Neurometabolic Unit, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

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http://jcn.sagepub.com/content/early/2009/08/14/088307380934	Web Search
http://jcn.sagepub.com/cgi/doi/10.1177/0883073809340696	Publisher Site
http://dx.doi.org/10.1177/0883073809340696	DOI Listing

March 2010

[Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?].

Authors:

María Eugenia Russi Gabriel González Roberto Crosa Belén Pérez-Dueñas Verónica González-Alvarez Jaume Campistol Teresa Solá-Martínez

Rev Neurol 2010 Mar;50(5):257-64

Servicio de Neuropediatría, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.

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March 2010

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

Authors:

Belén Pérez-Dueñas Alberto De La Osa Antoni Capdevila Aleix Navarro-Sastre Andy Leist Antonia Ribes Angels García-Cazorla Mercedes Serrano Mercedes Pineda Jaume Campistol

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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http://dx.doi.org/10.1016/j.ejpn.2008.12.002	DOI Listing

November 2009

Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.

Authors:

Belén Pérez-Dueñas Catherina Prior Qian Ma Emilio Fernández-Alvarez Xavier Setoain Rafael Artuch Juan M Pascual

Arch Neurol 2009 Nov;66(11):1410-4

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

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http://dx.doi.org/10.1001/archneurol.2009.236	DOI Listing

November 2009

Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

Authors:

Alfredo Cerisola Jaume Campistol Belén Pérez-Dueñas Pilar Poo Mercé Pineda Angels García-Cazorla Francesc X Sanmartí Antonia Ribes María Antonia Vilaseca

Pediatr Neurol 2009 Jun;40(6):426-31

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.12.009	DOI Listing

June 2009

Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.

Authors:

Ana Roche Belén Pérez-Dueñas Juan Antonio Camacho Rosa J Torres Juan G Puig Angels García-Cazorla Rafael Artuch

Am J Kidney Dis 2009 Apr 6;53(4):677-80. Epub 2008 Nov 6.

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

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http://dx.doi.org/10.1053/j.ajkd.2008.09.011	DOI Listing

April 2009

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

Authors:

Isaac Marín-Valencia Mercedes Serrano Aida Ormazabal Belén Pérez-Dueñas Angels García-Cazorla Jaume Campistol Rafael Artuch

Clin Biochem 2008 Nov 3;41(16-17):1306-15. Epub 2008 Sep 3.

Neuropediatrics, Hospital Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2008.08.077	DOI Listing

November 2008

Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.

Authors:

Mercedes Serrano Belen Pérez-Dueñas Aida Ormazábal Rafael Artuch Jaume Campistol Rosa J Torres Angels García-Cazorla

Mov Disord 2008 Jul;23(9):1297-300

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

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http://dx.doi.org/10.1002/mds.21786	DOI Listing

July 2008

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies.

Authors:

Sofia Duarte Francesc Sanmarti Veronica Gonzalez Belen Perez Duenas Aida Ormazabal Rafael Artuch Jaime Campistol Angels Garcia-Cazorla

Brain Dev 2008 Feb 21;30(2):106-11. Epub 2007 Aug 21.

Neurology Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain.

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