Angeles García-Cazorla

Angeles García-Cazorla

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Angeles García-Cazorla

Angeles García-Cazorla

Publications by authors named "Angeles García-Cazorla"

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19Publications

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Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.

J Inherit Metab Dis 2019 Jul 24;42(4):706-727. Epub 2019 Apr 24.

Neurology Department, Neurometabolic Unit and Synaptic Metabolism Lab, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, metabERN and CIBERER-ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1002/jimd.12086DOI Listing
July 2019

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Eur J Hum Genet 2010 Dec 28;18(12):1353-5. Epub 2010 Jul 28.

Sección de Errores Congénitos del Metabolismo (IBC), Servicio de Bioquímica y Genética Molecular, Hospital Clínic, IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1038/ejhg.2010.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002859PMC
December 2010