Sökresultat - Saudubray, J M

Pharmacokinetic and Clinical Study of Cefuroxime in Infants av Sorin, M, Ghnassia, J C, Demerleire, F, Saudubray, J M

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Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. av Kamijo, T, Wanders, R J, Saudubray, J M, Aoyama, T, Komiyama, A, Hashimoto, T

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Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. av Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A

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Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. av Pande, S V, Brivet, M, Slama, A, Demaugre, F, Aufrant, C, Saudubray, J M

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Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. av Fournier, B, Saudubray, J M, Benichou, B, Lyonnet, S, Munnich, A, Clevers, H, Poll-The, B T

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Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). av Rötig, A, Cormier, V, Chatelain, P, Francois, R, Saudubray, J M, Rustin, P, Munnich, A

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Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II defic... av Demaugre, F, Bonnefont, J P, Colonna, M, Cepanec, C, Leroux, J P, Saudubray, J M

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The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and N... av Robinson, B H, Oei, J, Saudubray, J M, Marsac, C, Bartlett, K, Quan, F, Gravel, R

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Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. av Bonnefont, J. P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J. M., Leroux, J. P., Demaugre, F.

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Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. av Rötig, A, Bessis, J L, Romero, N, Cormier, V, Saudubray, J M, Narcy, P, Lenoir, G, Rustin, P, Munnich, A

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. av Rötig, A, Cormier, V, Blanche, S, Bonnefont, J P, Ledeist, F, Romero, N, Schmitz, J, Rustin, P, Fischer, A, Saudubray, J M

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Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. av Mitchell, G A, Labuda, D, Fontaine, G, Saudubray, J M, Bonnefont, J P, Lyonnet, S, Brody, L C, Steel, G, Obie, C, Valle, D

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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. av Jaeken, J, Matthijs, G, Saudubray, J M, Dionisi-Vici, C, Bertini, E, de Lonlay, P, Henri, H, Carchon, H, Schollen, E, Van Schaftingen, E

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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. av Verkarre, V, Fournet, J C, de Lonlay, P, Gross-Morand, M S, Devillers, M, Rahier, J, Brunelle, F, Robert, J J, Nihoul-Fékété, C, Saudubray, J M, Junien, C

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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pan... av de Lonlay, P, Fournet, J C, Rahier, J, Gross-Morand, M S, Poggi-Travert, F, Foussier, V, Bonnefont, J P, Brusset, M C, Brunelle, F, Robert, J J, Nihoul-Fékété, C, Saudubray, J M, Junien, C

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Hypokalemic Periodic Paralysis and the Dihydropyridine Receptor (CACNLIA3): Genotype/Phenotype Correlations for two Predominant Mutations and Evidence for the Absence of a Founder... av Elbaz, A., Vale-Santos, J., Jurkat-Rott, K., Lapie, P., Ophoff, R. A., Bady, B., Links, T. P., Piussan, C., Vila, A., Monnier, N., Padberg, G. W., Abe, K., Feingold, N., Guimaraes, J., Wintzen, A. R., van der Hoeven, J. H., Saudubray, J. M., Grunfeld, J. P., Lenoir, G., Nivet, H., Echenne, B., Frants, R. R., Fardeau, M., Lehmann-Horn, F., Fontaine, B.

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