Publications by authors named "Angels García-Cazorla"

100Publications

Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.

Ophthalmic Genet 2020 Sep 17:1-3. Epub 2020 Sep 17.

Ophthalmology Department, Sant Joan de deu Hospital , Barcelona, Spain.

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http://dx.doi.org/10.1080/13816810.2020.1821382DOI Listing
September 2020

Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.

Neurobiol Dis 2020 Nov 14;145:105043. Epub 2020 Aug 14.

Instituto de Farmacologia e Neurociências, Faculdade de Medicina e Instituto de Medicina Molecular - João Lobo Antunes, Universidade de Lisboa, Lisboa, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.105043DOI Listing
November 2020

Severe Pulmonary Hypertension as the Debut of Metabolic Disease.

Arch Bronconeumol 2020 Aug 10. Epub 2020 Aug 10.

Unidad de Cuidados Intensivos Pediátricos (UCIP), Hospital Sant Joan de Déu. Institut de Recerca H. Sant Joan de Déu, Barcelona, España.

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http://dx.doi.org/10.1016/j.arbres.2020.06.020DOI Listing
August 2020

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.

J Inherit Metab Dis 2020 Jul 23;43(4):712-725. Epub 2020 Jan 23.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12213DOI Listing
July 2020

Infectious stress triggers a POLG-related mitochondrial disease.

Neurogenetics 2020 01 26;21(1):19-27. 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
January 2020

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

Reply.

Liver Transpl 2019 01;25(1):178-179

HPB Surgery and Transplants Department, Hospital Universiatri Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1002/lt.25389DOI Listing
January 2019

Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

J Inherit Metab Dis 2018 11 18;41(6):1131-1145. Epub 2018 Jul 18.

Department of Neurology, Neurometabolic Unit and Synaptic Metabolism Laboratory, Institut Pediàtric de Recerca and CIBERER, ISCIII, 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/s10545-018-0230-zDOI Listing
November 2018

Synaptic metabolism: a new approach to inborn errors of neurotransmission.

J Inherit Metab Dis 2018 11 16;41(6):1065-1075. Epub 2018 Jul 16.

Synaptic Metabolism Laboratory, Department of Neurology, Fundació Sant Joan de Déu, Institut Pediàtric de Recerca, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-018-0235-7DOI Listing
November 2018

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.

J Inherit Metab Dis 2018 11 16;41(6):1043-1054. Epub 2018 Jul 16.

Department of Neurology, Neurometabolic Unit, Hopital Pitié Salpétrière, 47-83 Boulevard de l'Hopital, 75651, Paris Cedex 13, France.

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http://dx.doi.org/10.1007/s10545-018-0226-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326994PMC
November 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

Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

Pediatr Clin North Am 2018 04;65(2):179-208

Neurology Department, Neurometabolic Unit, Hospital Sant Joan de Deu and CIBERER-ISCIII, Passeig Sant Joan de Deu 28950 Esplugues de Llobregat, Barcelona, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S00313955173017
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http://dx.doi.org/10.1016/j.pcl.2017.11.002DOI Listing
April 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

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

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

Neuromuscular Manifestations in Mitochondrial Diseases in Children.

Semin Pediatr Neurol 2016 11 9;23(4):290-305. Epub 2016 Nov 9.

Center for Biomedical Research on Rare Diseases (CIBERER), Institute of Pediatric Research Sant Joan de Déu, Madrid, Spain; Department of Neurology, Neurometabolic Units, Hospital Sant Joan de Déu, Instituto de Salud Carlos III, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.spen.2016.11.004DOI Listing
November 2016

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Hum Mutat 2017 06 20;38(6):678-691. Epub 2017 Mar 20.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Universidad Autónoma Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.23208DOI Listing
June 2017

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

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

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

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

J Inherit Metab Dis 2016 Mar 27;39(2):231-41. Epub 2015 Aug 27.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9887-8DOI Listing
March 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

Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms.

Biochim Biophys Acta 2015 Sep 8;1854(9):1078-89. Epub 2015 May 8.

Department of Biomedicine, University of Bergen, Jonas Lies vei 91, 5009 Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.bbapap.2015.04.030DOI Listing
September 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

[Neuronal communication and synaptic metabolism in childhood epilepsy].

Rev Neurol 2015 Mar;60(5):219-28

Hospital Sant Joan de Deu, Esplugues de Llobregat, Espana.

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March 2015

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

J Inherit Metab Dis 2015 Jan 21;38(1):19-40. Epub 2014 Nov 21.

Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain,

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http://dx.doi.org/10.1007/s10545-014-9776-6DOI Listing
January 2015

[Diploid/triploid mosaicism: a variable but characteristic phenotype].

Rev Neurol 2014 Aug;59(4):158-63

Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana.

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August 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

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

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

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

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

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

[Hypotonia in the neonatal period: 12 years' experience].

Rev Neurol 2013 Jan;56(2):72-8

Servicio de Neurología Pediátrica, Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana.

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January 2013

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

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

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

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http://dx.doi.org/10.1007/s10545-012-9565-zDOI Listing
September 2013

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

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Brain Dev 2012 Mar 8;34(3):255-7. Epub 2011 May 8.

Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona University, CIBER-ER, Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.braindev.2011.04.007DOI Listing
March 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

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission.

J Inherit Metab Dis 2011 Apr 13;34(2):523-8. Epub 2011 Jan 13.

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

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http://link.springer.com/content/pdf/10.1007/s10545-010-9256
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http://link.springer.com/10.1007/s10545-010-9256-6
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http://dx.doi.org/10.1007/s10545-010-9256-6DOI Listing
April 2011

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

[Diffusion-weighted imaging in pediatric central nervous system infections].

Rev Neurol 2010 Feb 1-15;50(3):133-8

Servicio de Neurología, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Espana.

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April 2010

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

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.

J Inherit Metab Dis 2010 Feb 5;33(1):1-7. Epub 2010 Jan 5.

Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues, Spain.

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http://dx.doi.org/10.1007/s10545-009-9004-yDOI Listing
February 2010

Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome.

Pediatr Neurol 2009 Dec;41(6):448-50

Department of Neurology, Hospital Sant Joan de Déu, University of Barcelona, 08950 Esplugues de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.06.008DOI Listing
December 2009

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

Cerebellar hemorrhage in a patient with propionic acidemia.

Cerebellum 2009 Sep 26;8(3):352-4. Epub 2009 May 26.

Neurology and Metabolism Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Esplugues de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1007/s12311-009-0103-yDOI Listing
September 2009

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

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

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

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

Mitochondrial diseases mimicking neurotransmitter defects.

Mitochondrion 2008 Jun 21;8(3):273-8. Epub 2008 May 21.

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

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http://dx.doi.org/10.1016/j.mito.2008.05.001DOI Listing
June 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

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.

Clin Biochem 2008 Jun 20;41(9):697-700. Epub 2008 Mar 20.

Department of Clinical Biochemistry, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III. Barcelona, Spain.

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http://dx.doi.org/10.1016/j.clinbiochem.2008.03.007DOI Listing
June 2008