Authors:
Rötig, Agnès
Bessis, Jean-Louis
Romero, Norma
Cormier, Valerie
Saudubray, Jean-Marie
Narcy, Philippe
Lenoir, Gérard
Rustin, Pierre
Munnich, Arnold
Citation: Rötig, Agnès et al., Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia., American journal of human genetics , 50-I(2), 1992, pp. 364-370
Authors:
Poll-The, Bwee Tien
Roels, Frank
Ogier, Hélène
Scotto, Jacques
Vamecq, Joseph
Schutgens, Ruud B. H.
Wanders, Ronald I. A.
Roermund, Carlo W. T. van
Wijland, Michil J. A. van
Schram, Adre W.
Tager, Joseph M.
Saudubray, Jean-Marie
Citation: Poll-the, Bwee Tien et al., A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of Acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy), American journal of human genetics , 42(3), 1988, pp. 422-434
Authors:
Cormier, Valerie
Rotig, Agnes
Tardieu, Marc
Colonna, Michel
Saudubray, Jean-Marie
Munnich, Arnold
Citation: Cormier, Valerie et al., Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy., American journal of human genetics , 48-II(4), 1991, pp. 643-648
Authors:
Rey, Francoise
Berthelon, Monique
Caillaud, Catherine
Lyonnet, Stanislas
Abadie, Véronique
Blandin-Savoja, Félicienne
Feingold, Josue
Saudubray, Jean-Marie
Frézal, Jean
Munich, Arnold
Rey, Jean
Citation: Rey, Francoise et al., Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in france, American journal of human genetics , 43-II(6), 1988, pp. 914-921