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Authors: Soumeya Bekri
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FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13/AGT1 IN HUMAN CYSTINURIA

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Ria Schönauer and others
Nephrology Dialysis Transplantation, Volume 36, Issue Supplement_1, May 2021, gfab131.004, https://doi.org/10.1093/ndt/gfab131.004
Published: 29 May 2021
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Hyperinsulinemic Hypoglycemia in a Neonate Get access

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Anais Melin and others
Clinical Chemistry, Volume 65, Issue 2, 1 February 2019, Pages 351–353, https://doi.org/10.1373/clinchem.2018.292326
Published: 01 February 2019
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Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria Get access

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Sarah Grotto and others
Clinical Chemistry, Volume 64, Issue 4, 1 April 2018, Pages 752–754, https://doi.org/10.1373/clinchem.2017.281246
Published: 01 April 2018
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Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency Get access

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Nathalie Pirot and others
Journal of Neuropathology & Experimental Neurology, Volume 75, Issue 3, March 2016, Pages 227–238, https://doi.org/10.1093/jnen/nlv022
Published: 09 February 2016
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A 9-Year-Old Child with Methemoglobinemia Get access

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Stéphanie Rogeau and others
Clinical Chemistry, Volume 60, Issue 8, 1 August 2014, Pages 1126–1127, https://doi.org/10.1373/clinchem.2013.218073
Published: 01 August 2014
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Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease Get access

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Noureddine Brakch and others
European Heart Journal, Volume 31, Issue 1, January 2010, Pages 67–76, https://doi.org/10.1093/eurheartj/ehp387
Published: 22 September 2009