Pharmacokinetic and Clinical Study of Cefuroxime in Infants

nork Sorin, M, Ghnassia, J C, Demerleire, F, Saudubray, J M
Argitaratua 1977

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

nork Kamijo, T, Wanders, R J, Saudubray, J M, Aoyama, T, Komiyama, A, Hashimoto, T
Argitaratua 1994

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

nork Pande, S V, Brivet, M, Slama, A, Demaugre, F, Aufrant, C, Saudubray, J M
Argitaratua 1993

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

nork Cormier, V, Rotig, A, Tardieu, M, Colonna, M, Saudubray, J M, Munnich, A
Argitaratua 1991

Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy.

nork Fournier, B, Saudubray, J M, Benichou, B, Lyonnet, S, Munnich, A, Clevers, H, Poll-The, B T
Argitaratua 1994

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

nork Rötig, A, Cormier, V, Chatelain, P, Francois, R, Saudubray, J M, Rustin, P, Munnich, A
Argitaratua 1993

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II defic...

nork Demaugre, F, Bonnefont, J P, Colonna, M, Cepanec, C, Leroux, J P, Saudubray, J M
Argitaratua 1991

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and N...

nork Robinson, B H, Oei, J, Saudubray, J M, Marsac, C, Bartlett, K, Quan, F, Gravel, R
Argitaratua 1987

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

nork Bonnefont, J. P., Taroni, F., Cavadini, P., Cepanec, C., Brivet, M., Saudubray, J. M., Leroux, J. P., Demaugre, F.
Argitaratua 1996

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

nork Rötig, A, Bessis, J L, Romero, N, Cormier, V, Saudubray, J M, Narcy, P, Lenoir, G, Rustin, P, Munnich, A
Argitaratua 1992

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

nork Rötig, A, Cormier, V, Blanche, S, Bonnefont, J P, Ledeist, F, Romero, N, Schmitz, J, Rustin, P, Fischer, A, Saudubray, J M
Argitaratua 1990

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

nork Mitchell, G A, Labuda, D, Fontaine, G, Saudubray, J M, Bonnefont, J P, Lyonnet, S, Brody, L C, Steel, G, Obie, C, Valle, D
Argitaratua 1991

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

nork Jaeken, J, Matthijs, G, Saudubray, J M, Dionisi-Vici, C, Bertini, E, de Lonlay, P, Henri, H, Carchon, H, Schollen, E, Van Schaftingen, E
Argitaratua 1998

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

nork 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
Argitaratua 1998

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pan...

nork 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
Argitaratua 1997

Hypokalemic Periodic Paralysis and the Dihydropyridine Receptor (CACNLIA3): Genotype/Phenotype Correlations for two Predominant Mutations and Evidence for the Absence of a Founder...

nork 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.
Argitaratua 1995