Cardiac anaplerosis in health and disease: food for thought von Des Rosiers, Christine, Labarthe, François, Lloyd, Steven G, Chatham, John C

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Validation of plasma amino acid profile using UHPLC-mass spectrometer (QDa) as a screening method in a metabolic disorders reference centre: Performance and accreditation concerns von Bruno, C., Veyrat-Durebex, C., Lumbu Lukuntonda, C.H., Andres, C.R., Moreau, C., Bendavid, C., Homedan, C., Labarthe, F., Tardieu, M., Bigot, A., Maillot, F., Benz-de Bretagne, I., Blasco, H.

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Acute fatty liver of pregnancy and mitochondrial fatty acid oxidation. Consequences for the offspring von Anon, B, Barbet, C, Gendrot, C, Labarthe, F, Bacq, Y

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Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M) von Chabrol, B., Jacquin, P., Francois, L., Broué, P., Dobbelaere, D., Douillard, C., Dubois, S., Feillet, F., Perrier, A., Fouilhoux, A., Labarthe, F., Lamireau, D., Mazodier, K., Maillot, F., Mochel, F., Schiff, M., Belmatoug, N.

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Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management von Bruno, C., Dufour-Rainfray, D., Patin, F., Vourch, P., Guilloteau, D., Maillot, F., Labarthe, F., Tardieu, M., Andres, C.R., Emond, P., Blasco, H.

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A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria von Blasco, H., Veyrat-Durebex, C., Bertrand, M., Patin, F., Labarthe, F., Henique, H., Emond, P., Andres, C. R., Antar, C., Landon, C., Nadal-Desbarats, L., Maillot, F.

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Cardiomyopathy induced by frequent premature ventricular contractions von Chantepie, A, Soulé, N, Poinsot, J, Labarthe, F, Lefort, B

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Erratum to “Validation of amino-acids measurement in dried blood spot by FIA-MS/MS for PKU management” [Clin. Biochem. 49 (2016) 1047–1050] von Bruno, C., Dufour-Rainfray, D., Patin, F., Vourc'h, P., Guilloteau, D., Maillot, F., Labarthe, F., Tardieu, M., Andres, C.R., Emond, P., Blasco, H.

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Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency von Boutron, A., Acquaviva, C., Vianey-Saban, C., de Lonlay, P., de Baulny, H. Ogier, Guffon, N., Dobbelaere, D., Feillet, F., Labarthe, F., Lamireau, D., Cano, A., de Villemeur, T. Billette, Munnich, A., Saudubray, J.M., Rabier, D., Rigal, O., Brivet, M.

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Malignant pertussis and exchange transfusion von Chantreuil, J, Fakhri, N, Labarthe, F, Saliba, E, Favrais, G

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Successful treatment with fumagillin of the first pediatric case of digestive microsporidiosis in a liver‐kidney transplant von Desoubeaux, G., Maakaroun‐Vermesse, Z., Lier, C., Bailly, É., Morio, F., Labarthe, F., Bernard, L., Chandenier, J.

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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study von Freihuber, C, Dahmani, B, Brassier, A, Broue, P, Cances, C, Chabrol, B, Eyer, D, Labarthe, F, Latour, P, Levade, T, Pichard, S, Sevin, C, Vanier, M.T, Héron, B

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Atrioventricular block after transcatheter atrial septal defect closure using the Amplatzer septal occluder(®) von Chantepie, A, Lefort, B, Soulé, N, Bonnefoy, R, Labarthe, F

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Clinical presentation of inborn metabolic diseases in the neonatal period von Labarthe, F, Tardieu, M, de Parscau, L, Lamireau, D

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Donohue syndrome or leprechaunism von Planchenault, D, Martin-Coignard, D, Rugemintwaza, D, Bah, A-G, Cosson, L, Labarthe, F, Chantepie, A, Saliba, E

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Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management von Feillet, F, Ogier, H, Cheillan, D, Aquaviva, C, Labarthe, F, Baruteau, J, Chabrol, B, de Lonlay, P, Valayanopoulos, V, Garnotel, R, Dobbelaere, D, Briand, G, Jeannesson, E, Vassault, A, Vianey-Saban, C

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Gastric perforation in neonate: A rare complication of birth trauma von Uettwiller, F, Roullet-Renoleau, N, Letouze, A, Lardy, H, Saliba, E, Labarthe, F

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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study von Tardieu, Marine, Cudejko, Céline, Cano, Aline, Hoebeke, Célia, Bernoux, Delphine, Goetz, Violette, Pichard, Samia, Brassier, Anaïs, Schiff, Manuel, Feillet, François, Rollier, Paul, Mention, Karine, Dobbelaere, Dries, Fouilhoux, Alain, Espil‐Taris, Caroline, Eyer, Didier, Huet, Frédéric, Walther‐Louvier, Ulrike, Barth, Magalie, Chevret, Laurent, Kuster, Alice, Lefranc, Jérémie, Neveu, Julien, Pitelet, Gaele, Ropars, Juliette, Rivier, François, Roubertie, Agathe, Touati, Guy, Vanhulle, Catherine, Tardieu, Emilie, Caillaud, Catherine, Froissart, Roseline, Champeaux, Murielle, Labarthe, François, Chabrol, Brigitte

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Nouvelles approches thérapeutiques des anomalies de la β-oxydation mitochondriale von Labarthe, F.

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New therapeutic approaches in mitochondrial fatty acid oxidation disorders von Labarthe, F

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