Marisa Giros

Marisa Giros

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Marisa Giros

Marisa Giros

Publications by authors named "Marisa Giros"

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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

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Pediatrics 2016 11 18;138(5). Epub 2016 Oct 18.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain; and

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http://dx.doi.org/10.1542/peds.2015-4534DOI Listing
November 2016

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.

J Lipid Res 2015 Oct 3;56(10):1926-35. Epub 2015 Aug 3.

Sección de Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Institut d'Investigacions Biomèdiques Pi i Sunyer (IDIBAPS), and Ciber Enfermedades Raras (CIBERER) Instituto de Salud Carlos III, Hospital Clinic, Barcelona, Spain.

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http://dx.doi.org/10.1194/jlr.M060343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583089PMC
October 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

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Acta Neuropathol 2015 Mar 31;129(3):399-415. Epub 2014 Dec 31.

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L' Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1007/s00401-014-1378-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331612PMC
March 2015

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

FEBS J 2014 Oct 21;281(19):4450-66. Epub 2014 Aug 21.

Secció d'Errors Congènits del Metabolisme (IBC), Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain; CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain; IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1111/febs.12954DOI Listing
October 2014

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

Biochim Biophys Acta 2014 Mar 11;1841(3):336-44. Epub 2013 Sep 11.

IBSAL (Instituto de Investigación Biosanitaria de Salamanca), Spain; Molecular Medicine Unit, Faculty of Medicine, University of Salamanca, Campus Miguel de Unamuno S/N, Salamanca 37007, Spain; Laboratory 14, IBMCC-CSIC, University of Salamanca, Campus Miguel de Unamuno S/N, Salamanca 37007, Spain.

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http://dx.doi.org/10.1016/j.bbalip.2013.09.002DOI Listing
March 2014

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

Am J Physiol Endocrinol Metab 2009 Jan 14;296(1):E211-21. Epub 2008 Oct 14.

Centre de Genètica Mèdica i Molecular, Institut d'Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.

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http://ajpendo.physiology.org/content/ajpendo/296/1/E211.ful
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http://ajpendo.physiology.org/cgi/doi/10.1152/ajpendo.90736.
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http://dx.doi.org/10.1152/ajpendo.90736.2008DOI Listing
January 2009

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.

Hum Mol Genet 2004 Dec 15;13(23):2997-3006. Epub 2004 Oct 15.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM.ULP and Collè de France. Illkirch, CU de Strasbourg, France.

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http://academic.oup.com/hmg/article/13/23/2997/625594/Functi
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http://dx.doi.org/10.1093/hmg/ddh323DOI Listing
December 2004

Modifying the peroxisomes by cell & tissue culture: II. Fibroblasts.

Adv Exp Med Biol 2003 ;544:265-70

Institut de Bioquímica Clínica, Centre Diagnòstic Biomèdic, Corporació Sanitària Clinic, Mejia Lequerica s/n, Edifici Hélios III, Planta baixa, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1007/978-1-4419-9072-3_34DOI Listing
July 2004