Publications by authors named "Matilde Fernandez Ojeda"

6Publications

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Mol Genet Metab 2020 07 4;130(3):172-178. Epub 2020 May 4.

Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, the Netherlands; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.04.004DOI Listing
July 2020

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Can J Neurol Sci 2018 01 16;45(1):93-96. Epub 2017 Nov 16.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2017.246DOI Listing
January 2018

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Mol Genet Metab 2012 Apr 6;105(4):596-601. Epub 2012 Jan 6.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.022DOI Listing
April 2012