Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases von Lamari, F., Mochel, F., Sedel, F., Saudubray, J. M.

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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults von Sedel, F, Baumann, N, Turpin, J.-C, Lyon-Caen, O, Saudubray, J.-M, Cohen, D

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Clinical approach to treatable inborn metabolic diseases: An introduction von Saudubray, J.‐M., Sedel, F., Walter, J. H.

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Movement disorders and inborn errors of metabolism in adults: A diagnostic approach von Sedel, F., Saudubray, J.-M., Roze, E., Agid, Y., Vidailhet, M.

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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein von Imbard, A., Boutron, A., Vequaud, C., Zater, M., de Lonlay, P., Ogier de Baulny, H., Barnerias, C., Miné, M., Marsac, C., Saudubray, J.-M., Brivet, M.

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Leukoencephalopathies associated with inborn errors of metabolism in adults von Sedel, F., Tourbah, A., Fontaine, B., Lubetzki, C., Baumann, N., Saudubray, J.-M., Lyon-Caen, O.

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Methylmalonic and propionic acidaemias: Management and outcome von De Baulny, H. Ogier, Benoist, J. F., Rigal, O., Touati, G., Rabier, D., Saudubray, J. M.

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Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture von Touati, G., Valayannopoulos, V., Mention, K., Lonlay, P., Jouvet, P., Depondt, E., Assoun, M., Souberbielle, J. C., Rabier, D., Ogier de Baulny, H., Saudubray, J.‐M.

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Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum von Ewenczyk, C., Leroux, A., Roubergue, A., Laugel, V., Afenjar, A., Saudubray, J. M., Beauvais, P., de Villemeur, T. Billette, Vidailhet, M., Roze, E.

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Practical management of hyperinsulinism in infancy von Aynsley-Green, A, Hussain, K, Hall, J, Saudubray, J M, Nihoul-Fékété, C, De Lonlay-Debeney, P, Brunelle, F, Otonkoski, T, Thornton, P, Lindley, K J

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Biochemical and molecular investigations in respiratory chain deficiencies von Rustin, P., Chretien, D., Bourgeron, T., Gérard, B., Rötig, A., Saudubray, J.M., Munnich, A.

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Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients von Garcia-Cazorla, A, De Lonlay, P, Nassogne, M.C, Rustin, P, Touati, G, Saudubray, J.M

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases von de Lonlay, P, Seta, N, Barrot, S, Chabrol, B, Drouin, V, Gabriel, B M, Journel, H, Kretz, M, Laurent, J, Le Merrer, M, Leroy, A, Pedespan, D, Sarda, P, Villeneuve, N, Schmitz, J, van Schaftingen, E, Matthijs, G, Jaeken, J, Korner, C, Munnich, A, Saudubray, J M, Cormier-Daire, V

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Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach von Sedel, F, Fontaine, B, Saudubray, J. M, Lyon-Caen, O

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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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Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children von BONNET, D, MARTIN, D, DE LONLAY, P, VILLAIN, E, JOUVET, P, RABIER, D, BRIVET, M, SAUDUBRAY, J.-M

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Epilepsy and inborn errors of metabolism in adults: A diagnostic approach von Sedel, F, Gourfinkel-An, I, Lyon-Caen, O, Baulac, M, Saudubray, J.-M, Navarro, V

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Recognition and management of fatty acid oxidation defects : A series of 107 patients von SAUDUBRAY, J. M, MARTIN, D, BONNEFONT, J. P, RABIER, D, KAMOUN, P, BRIVET, M, DE LONLAY, P, TOUATI, G, POGGI-TRAVERT, F, BONNET, D, JOUVET, P, BOUTRON, M, SLAMA, A, VIANEY-SABAN, C

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Clinical Features of 52 Neonates with Hyperinsulinism von de Lonlay-Debeney, Pascale, Poggi-Travert, Florence, Fournet, Jean-Christophe, Sempoux, Christine, Vici, Carlo Dionisi, Brunelle, Francis, Touati, Guy, Rahier, Jacques, Junien, Claudine, Nihoul-Fékété, Claire, Robert, Jean-Jacques, Saudubray, Jean-Marie

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Dihydropteridine reductase deficiency : Levodopa's long-term effectiveness without dyskinesia von SEDEL, F, RIBEIRO, M. J, REMY, P, BLAU, N, SAUDUBRAY, J.-M, AGID, Y

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