Rafael Artuch

Rafael Artuch

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Rafael Artuch

Rafael Artuch

Publications by authors named "Rafael Artuch"

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Inducible Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease.

Int J Mol Sci 2019 Oct 24;20(21). Epub 2019 Oct 24.

Institute for Research in Biomedicine (IRB Barcelona), the Barcelona Institute of Science and Technology (BIST), 08028 Barcelona, Spain.

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http://dx.doi.org/10.3390/ijms20215294DOI Listing
October 2019

Infectious stress triggers a POLG-related mitochondrial disease.

Neurogenetics 2019 Oct 26. Epub 2019 Oct 26.

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

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

Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status.

Eur J Paediatr Neurol 2019 Sep 26;23(5):685-691. Epub 2019 Aug 26.

Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain; Department of Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain; Biomedical Network Research Center for Rare Diseases (CIBER-ER), Institute of Health Carlos III (ISCIII), Madrid, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798193017
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http://dx.doi.org/10.1016/j.ejpn.2019.08.005DOI Listing
September 2019

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.

J Physiol 2019 Aug 3;597(15):3969-3983. Epub 2019 Jul 3.

Unitat de Fisiologia, Departament de Ciències Fisiològiques, Genes, Disease and Therapy Program, IDIBELL-Institute of Neurosciences, Universitat de Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1113/JP278069DOI Listing
August 2019

Cerebral folate deficiency: Analytical tests and differential diagnosis.

J Inherit Metab Dis 2019 Jul 2;42(4):655-672. Epub 2019 May 2.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/jimd.12092DOI Listing
July 2019

Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis.

Pediatr Neurol 2019 Jul 7;96:70-73. Epub 2019 Feb 7.

Department of Pediatrics, Hospital Sant Joan de Deu (University of Barcelona), Barcelona, Spain; Pediatric Infectious Diseases Research Group, Institut de Recerca Sant Joan de Deu, Barcelona, Spain; CIBER en Epidemiología y Salud Pública (CIBERESP), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.01.024DOI Listing
July 2019

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study.

Neurotherapeutics 2019 May 10. Epub 2019 May 10.

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute, Hospital Duran i Reynals, Gran Via de l'Hospitalet 199, 08908, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1007/s13311-019-00735-2DOI Listing
May 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

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

NGS for Metabolic Disease Diagnosis.

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

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

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

Synaptic metabolism and brain circuitries in inborn errors of metabolism.

J Inherit Metab Dis 2018 11;41(6):909-910

Molecular Physiology of the Synapse Laboratory, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-018-00252-yDOI Listing
November 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

White matter microstructural damage in early treated phenylketonuric patients.

Orphanet J Rare Dis 2018 10 26;13(1):188. Epub 2018 Oct 26.

Neuropediatric Department, PKU Follow Up Unit, Hospital Sant Joan de Déu (HSJD), Institut de Recerca Sant Joan de Deu (IRSJD), Passeig Sant Joan de Deu 2, Postal code, 08950, Barcelona, Spain.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0912-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203973PMC
October 2018

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

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

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

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

Molecular diagnosis of coenzyme Q deficiency: an update.

Expert Rev Mol Diagn 2018 06 30;18(6):491-498. Epub 2018 May 30.

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

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http://dx.doi.org/10.1080/14737159.2018.1478290DOI Listing
June 2018

Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations.

Neurobiol Aging 2018 05 7;65:206-216. Epub 2018 Feb 7.

Laboratory of Muscle Research and Mitochondrial Function-CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona (UB), Department of Internal Medicine-Hospital Clínic of Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.01.021DOI Listing
May 2018

A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry.

Metabolomics 2018 05 25;14(6):76. Epub 2018 May 25.

Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1007/s11306-018-1374-4DOI Listing
May 2018

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Nat Protoc 2017 Nov 19;12(11):2359-2375. Epub 2017 Oct 19.

Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.

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http://dx.doi.org/10.1038/nprot.2017.103DOI Listing
November 2017

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

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Mov Disord 2017 07 24;32(7):1108-1110. Epub 2017 Apr 24.

Synaptic Metabolism Laboratory, Hospital Sant Joan de Déu, Institut de Recerca Pediatric, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.27021DOI Listing
July 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

The Value of Coenzyme Q Determination in Mitochondrial Patients.

J Clin Med 2017 Mar 24;6(4). Epub 2017 Mar 24.

Clinical Biochemistry and Molecular Medicine Department, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Passeig Sant Joan de Déu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.3390/jcm6040037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5406769PMC
March 2017

Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

Semin Pediatr Neurol 2016 11 9;23(4):273-284. Epub 2016 Nov 9.

Clinical Biochemistry Department, Centre for Biomedical Research on Rare Disease (CIBERER-ISCIII), Pediatric Research Institute, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2016.11.002DOI Listing
November 2016

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

Semin Pediatr Neurol 2016 11 9;23(4):332-340. Epub 2016 Nov 9.

From the *Department of Neurology, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.spen.2016.11.007DOI Listing
November 2016

Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.

Semin Pediatr Neurol 2016 11 10;23(4):351-358. Epub 2016 Nov 10.

From the *Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; (†)Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.spen.2016.11.009DOI Listing
November 2016

Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population.

Biofactors 2015 Nov-Dec;41(6):424-30. Epub 2015 Nov 19.

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1002/biof.1242DOI Listing
October 2016

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.

Dev Med Child Neurol 2016 Aug 31;58(8):842-7. Epub 2016 Mar 31.

Pediatric Neurology and Clinical Biochemistry Departments, Institut de Recerca Pediátrica, Hospital Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1111/dmcn.13114DOI Listing
August 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

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.

Metab Brain Dis 2016 06 21;31(3):705-9. Epub 2015 Dec 21.

Laboratory of Synaptic Metabolism, Fundació Sant Joan de Déu (FSJD), Barcelona, Spain.

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http://dx.doi.org/10.1007/s11011-015-9780-zDOI Listing
June 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

Molecular diagnosis of coenzyme Q10 deficiency.

Expert Rev Mol Diagn 2015 4;15(8):1049-59. Epub 2015 Jul 4.

Department of Genetic and Molecular Medicine, and Pediatric Institute for Rare Diseases (IPER), Hospital Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1586/14737159.2015.1062727DOI Listing
April 2016

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

Can folic acid have a role in mitochondrial disorders?

Drug Discov Today 2015 Nov 14;20(11):1349-54. Epub 2015 Jul 14.

Clinical Biochemistry Department, Hospital Sant Joan de Déu, Center for Biomedical Research in Rare Diseases, Barcelona, Spain; CIBERER-ISCIII, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.drudis.2015.07.002DOI Listing
November 2015

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

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

Mitochondrion 2015 May 10;22:17-22. Epub 2015 Mar 10.

Departamentos de Neurología, Bioquímica Clínica y de Patología, Hospital Sant Joan de Déu, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.03.001DOI Listing
May 2015

Expanding the clinical phenotypes of MT-ATP6 mutations.

Hum Mol Genet 2014 Dec 30;23(23):6191-200. Epub 2014 Jun 30.

Departamento de Bioquímica, Biología Molecular y Celular, Instituto de Investigación Sanitaria de Aragón, Zaragoza, Spain, Centro de Investigaciones Biomédicas en red de Enfermedades Raras (CIBERER), Spain,

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http://dx.doi.org/10.1093/hmg/ddu339DOI Listing
December 2014

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

BMC Pediatr 2014 Nov 8;14:284. Epub 2014 Nov 8.

Clinical Biochemistry, Pediatric Neurology, Histopathology, Gastroenterology-Nutrition and Neuromuscular Unit Departments. Hospital Sant Joan de Déu and Centre For research in rare diseases (CIBERER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12887-014-0284-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228097PMC
November 2014

Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes.

PLoS One 2013 18;8(12):e83237. Epub 2013 Dec 18.

Clinical Biochemistry and Neuropediatrc Departments, University Hospital Sant Joan de Déu, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0083237PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867431PMC
October 2014

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

Biochemical diagnosis of coenzyme q10 deficiency.

Mol Syndromol 2014 Jul;5(3-4):147-55

Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1159/000362390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112526PMC
July 2014

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

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Hum Mol Genet 2014 Apr 20;23(7):1907-15. Epub 2013 Nov 20.

Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, C/Mejía Lequerica s/n, Barcelona 08028, Spain.

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http://dx.doi.org/10.1093/hmg/ddt585DOI Listing
April 2014

Analysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection.

Electrophoresis 2014 Apr 28;35(8):1181-7. Epub 2014 Jan 28.

Department of Clinical Biochemistry and Neuropaediatrics, Hospital Sant Joan de Déu-CIBERER-ISCIII, Barcelona, Spain; Department of Biochemistry and Molecular Biology, UAB, Barcelona, Spain.

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http://dx.doi.org/10.1002/elps.201300261DOI Listing
April 2014

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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http://dx.doi.org/10.1007/s10545-013-9620-4DOI Listing
January 2014

Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains.

Brain Struct Funct 2013 Sep 30;218(5):1229-77. Epub 2012 Sep 30.

Department of Human Anatomy and Psychobiology, Faculty of Medicine, School of Medicine, University of Murcia, 30071 Murcia, Spain.

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http://link.springer.com/10.1007/s00429-012-0456-8
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http://dx.doi.org/10.1007/s00429-012-0456-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748323PMC
September 2013

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.

Mov Disord 2013 Jul 6;28(8):1058-63. Epub 2013 Feb 6.

First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece.

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http://dx.doi.org/10.1002/mds.25382DOI Listing
July 2013

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

Mitochondrion 2013 Jul 11;13(4):337-41. Epub 2013 Apr 11.

Clinical Chemistry, Pathology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2013.04.001DOI Listing
July 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

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

JIMD Rep 2013 6;7:123-8. Epub 2012 Jul 6.

Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia - CSIC and CIBER de Enfermedades Raras (CIBERER), Valencia, Spain.

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http://dx.doi.org/10.1007/8904_2012_166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575052PMC
February 2013

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

JIMD Rep 2013 21;8:57-62. Epub 2012 Jul 21.

Paediatric Intensive Care Unit, Hospital Sant Jan de Déu and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Esplugues, Spain.

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http://dx.doi.org/10.1007/8904_2012_161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565672PMC
February 2013

Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients.

JIMD Rep 2012 4;4:13-6. Epub 2011 Nov 4.

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

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http://dx.doi.org/10.1007/8904_2011_41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509873PMC
February 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

L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.

J Am Anim Hosp Assoc 2012 Sep-Oct;48(5):366-71. Epub 2012 Jul 27.

Neurology Department, Hospital Ars Veterinaria, Barcelona, Spain.

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http://dx.doi.org/10.5326/JAAHA-MS-5967DOI Listing
November 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

Dyskinesias as a limiting factor in the treatment of Segawa disease.

Pediatr Neurol 2012 Jun;46(6):404-6

Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Maimónides Institute of Biomedical Research of Córdoba, University of Córdoba, Córdoba, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361688PMC
June 2012