Belen Pérez-Dueñas

Belen Pérez-Dueñas

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Belen Pérez-Dueñas

Belen Pérez-Dueñas

Publications by authors named "Belen Pérez-Dueñas"

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

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/mdc3.12842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856458PMC
November 2019

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

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
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http://dx.doi.org/10.1002/jimd.12125DOI Listing
July 2019

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

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-2018-105588DOI Listing
April 2019

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

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
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http://dx.doi.org/10.1016/j.parkreldis.2019.01.004DOI Listing
April 2019

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

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
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http://dx.doi.org/10.1016/j.ymgme.2019.01.001DOI Listing
March 2019

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

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.23638DOI Listing
December 2018

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

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
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http://dx.doi.org/10.1055/s-0038-1673332DOI Listing
December 2018

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

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
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http://dx.doi.org/10.1007/8904_2018_138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336675PMC
October 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

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

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.2016.12.060DOI Listing
April 2017

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

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.2016.11.009DOI Listing
January 2017

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

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.2016.11.008DOI Listing
November 2016

Treatment of genetic defects of thiamine transport and metabolism.

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/10.1080/14737175.2016.1187562DOI 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.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 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

Clinical, etiological and therapeutic aspects of cerebral folate deficiency.

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/10.1586/14737175.2015.1055322DOI Listing
March 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-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623922PMC
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.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

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

Thiamine transporter-2 deficiency: outcome and treatment monitoring.

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/10.1186/1750-1172-9-92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099387PMC
June 2014

Paroxysmal movement disorders and episodic ataxias.

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/B978-0-444-52910-7.00004-0DOI Listing
March 2014

Environmental circumstances influencing tic expression in children.

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.2013.10.002DOI Listing
March 2014

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

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/10.1186/1750-1172-8-170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016514PMC
October 2013

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

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.12116DOI Listing
June 2013

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

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.2012-2988DOI Listing
May 2013

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

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.2012.07.008DOI Listing
December 2012

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

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.25008DOI Listing
September 2012

Novel features in the evolution of adenylosuccinate lyase deficiency.

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.2011.08.008DOI Listing
July 2012

Neonatal erythroderma as a first manifestation of Menkes disease.

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.2011-1558DOI Listing
July 2012

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

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/10.1159/000335235DOI Listing
June 2012

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

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.2011.03.002DOI Listing
June 2011

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

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/s10545-009-9015-8DOI Listing
December 2010

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

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/s10545-010-9196-1DOI Listing
December 2010

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

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
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http://jcn.sagepub.com/cgi/doi/10.1177/0883073809340696
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http://dx.doi.org/10.1177/0883073809340696DOI Listing
March 2010

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

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.

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.2008.12.002DOI Listing
November 2009

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

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.2009.236DOI Listing
November 2009

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

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.2008.09.011DOI Listing
April 2009

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

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.2008.08.077DOI Listing
November 2008

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

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.21786DOI Listing
July 2008

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies.

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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http://dx.doi.org/10.1016/j.braindev.2007.06.009DOI Listing
February 2008

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.

Pediatr Radiol 2007 Oct 18;37(10):1043-6. Epub 2007 Aug 18.

Department of Pediatric Neurology, Hospital Sant Joan de Déu, Paseo de Sant Joan de Déu, 2 Esplugues de Llobregat, 08950 Barcelona, Spain.

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http://dx.doi.org/10.1007/s00247-007-0558-2DOI Listing
October 2007

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

Clin Chim Acta 2006 Sep 19;371(1-2):159-62. Epub 2006 Apr 19.

Department of Clinical Chemistry, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.cca.2006.03.004DOI Listing
September 2006

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

Mol Genet Metab 2005 Dec 22;86 Suppl 1:S54-60. Epub 2005 Jul 22.

Nutrition Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2005.05.014DOI Listing
December 2005

Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

Clin Biochem 2005 Dec 27;38(12):1127-32. Epub 2005 Oct 27.

PKU-follow-up Unit: Department of Biochemistry, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2005.09.002DOI Listing
December 2005

Characterization of tremor in phenylketonuric patients.

J Neurol 2005 Nov 5;252(11):1328-34. Epub 2005 Jul 5.

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

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http://dx.doi.org/10.1007/s00415-005-0860-6DOI Listing
November 2005

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Clin Biochem 2004 Dec;37(12):1083-90

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

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http://dx.doi.org/10.1016/j.clinbiochem.2004.09.005DOI Listing
December 2004