Publications by authors named "Samir Mesli"

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Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.
Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, Samir Mesli

Int J Neonatal Screen· July 2025

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Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.
Victor Marin, Louis Lebreton, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet

Front Genet· September 2024

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Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.
Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Samir Mesli

Front Genet· September 2024

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Preventing hyperhomocysteinemia using vitamin B supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli

Mol Genet Metab Rep· June 2024

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Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.
Lebreton Louis, Gaschignard Margaux, Guibet Claire, Lamireau Delphine, Roche Sandrine, Mesli Samir

JIMD Rep· January 2023

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[Review of nutritional components in Covid-19: what about micronutrients?].
Muriel Bost, Emmanuel Richard, Isabelle Redonnet-Vernhet, François Parant, Lysiane Boulet, Samir Mesli

Ann Biol Clin (Paris)· July 2022

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Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Ségolène Toquet, Marta Spodenkiewicz, Claire Douillard, François Maillot, Jean-Baptiste Arnoux, Samir Mesli

J Inherit Metab Dis· September 2021

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Amino acids and vitamins status during continuous renal replacement therapy: An ancillary prospective observational study of a randomised control trial.
Antoine G Schneider, Walter Picard, Patrick M Honoré, Antoine Dewitte, Samir Mesli

Anaesth Crit Care Pain Med· April 2021

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Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient.
Alice Larroumet, Marion Camoin, Ninon Foussard, Laure Alexandre, Samir Mesli

Nutrition· April 2020

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LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Rucheton Benoit, Mesli Samir, Julian Boutin, Amintas Samuel, Colombies Brigitte

Clin Chim Acta· June 2019

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Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation.
Mohsen Hosseini, Léa Dousset, Walid Mahfouf, Martin Serrano-Sanchez, Isabelle Redonnet-Vernhet, Samir Mesli

Cell Rep· June 2018

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Samir Mesli

J Inherit Metab Dis· March 2016

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Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.
Sébastien Cabasson, Serge Rivera, Samir Mesli, Elisabeth Dulubac

J Pediatr· March 2015

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Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
Annie M Bérard, Aurélie Bedel, Rémi Le Trequesser, Geneviève Freyburger, Alan Nurden, Samir Mesli

PLoS One· September 2013

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Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).
Julien Baruteau, Thierry Levade, Isabelle Redonnet-Vernhet, Samir Mesli, Marie-Claude Bloom

J Pediatr Endocrinol Metab· December 2009

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Distribution of the lipolysis stimulated receptor in adult and embryonic murine tissues and lethality of LSR-/- embryos at 12.5 to 14.5 days of gestation.
Samir Mesli, Sandrine Javorschi, Annie M Bérard, Marc Landry, Helen Priddle

Eur J Biochem· August 2004

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