Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges von Vianey‐Saban, Christine, Guffon, Nathalie, Fouilhoux, Alain, Acquaviva, Cécile

Volltext

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases von Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G.

Volltext

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance von Schiff, Manuel, Veauville-Merllié, Alice, Su, Chen Hsien, Tzagoloff, Alexander, Rak, Malgorzata, Ogier de Baulny, Hélène, Boutron, Audrey, Smedts-Walters, Hélène, Romero, Norma B, Rigal, Odile, Rustin, Pierre, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile

Volltext

Glucose-6-phosphatase deficiency von Froissart, Roseline, Piraud, Monique, Boudjemline, Alix Mollet, Vianey-Saban, Christine, Petit, François, Hubert-Buron, Aurélie, Eberschweiler, Pascale Trioche, Gajdos, Vincent, Labrune, Philippe

Volltext

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients von Baruteau, Julien, Sachs, Philippe, Broué, Pierre, Brivet, Michèle, Abdoul, Hendy, Vianey-Saban, Christine, Ogier de Baulny, Hélène

Volltext

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders von Piraud, Monique, Pettazzoni, Magali, Lavoie, Pamela, Ruet, Séverine, Pagan, Cécile, Cheillan, David, Latour, Philippe, Vianey-Saban, Christine, Auray-Blais, Christiane, Froissart, Roseline

Volltext

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses von Piraud, Monique, Pettazzoni, Magali, Menegaut, Louise, Caillaud, Catherine, Nadjar, Yann, Vianey‐Saban, Christine, Froissart, Roseline

Volltext

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy von Rossi, Massimiliano, Vasiljevic, Alexandre, Labalme, Audrey, Dijoud, Frédérique, Mallet‐Motak, Delphine, Petcu, Carmen Adina, Touraine, Renaud, Vianey‐Saban, Christine, Guibaud, Laurent, Edery, Patrick, Sanlaville, Damien, Morel, Yves

Volltext

Les Confluences » SSIEM 2015 Annual Symposium in Lyon von Vianey-Saban, Christine

Volltext

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease von Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T, Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P, Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David

Volltext

DHA at nutritional doses restores insulin sensitivity in skeletal muscle by preventing lipotoxicity and inflammation von Capel, Frédéric, Acquaviva, Cécile, Pitois, Elodie, Laillet, Brigitte, Rigaudière, Jean-Paul, Jouve, Chrystèle, Pouyet, Corinne, Gladine, Cècile, Comte, Blandine, Vianey Saban, Christine, Morio, Bèatrice

Volltext

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke von Demailly, Diane, Vianey‐Saban, Christine, Acquaviva, Cécile, Gonzalez, Victoria, Rubio, Isabel De Antonio, Cyprien, Fabienne, Roujeau, Thomas, Masoliver, Adria, Leboucq, Nicolas, Coubes, Philippe, Cif, Laura

Volltext

Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges von Laforet, Pascal, Vianey-Saban, Christine

Volltext

Subacute myopathy in a mature patient due to multiple acyl‐coenzyme a dehydrogenase deficiency von Kaminsky, Pierre, Acquaviva‐Bourdain, Cecile, Jonas, Jacques, Pruna, Lelia, Chaloub, Gihan e, Rigal, Odile, Grignon, Yves, Vianey‐Saban, Christine

Volltext

Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency von Grangé, Steven, Dr, Bekri, Soumeya, Prof, Artaud-Macari, Elise, MD, Francois, Arnaud, MD, Girault, Christophe, MD, Poitou, Anne-Laure, MD, Benhamou, Ygal, PhD, Vianey-Saban, Christine, PhD, Benoist, Jean-Francois, PhD, Châtelet, Valérie, MD, Tamion, Fabienne, Prof, Guerrot, Dominique, Prof

Volltext

Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms von Chkioua, Latifa, Khedhiri, Souhir, Kassab, Asma, Bibi, Amina, Ferchichi, Salima, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi

Volltext

Antenatal manifestations of inborn errors of metabolism: biological diagnosis von Vianey-Saban, Christine, Acquaviva, Cécile, Cheillan, David, Collardeau-Frachon, Sophie, Guibaud, Laurent, Pagan, Cécile, Pettazzoni, Magali, Piraud, Monique, Lamazière, Antonin, Froissart, Roseline

Volltext

Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs von Gaillard, Segolene, Roche, Laurent, Lemoine, Sandrine, Deschênes, Georges, Morin, Denis, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile, Ranchin, Bruno, Bacchetta, Justine, Kassai, Behrouz, Nony, Patrice, Bodénan, Eurielle, Laudy, Valérie, Rouges, Cécile, Zarrabian, Setareh, Subtil, Fabien, Mercier, Catherine, Cochat, Pierre, Bertholet-Thomas, Aurélia

Volltext

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis von Curie, Aurore, Touil, Nathalie, Gaillard, Segolene, Galanaud, Damien, Leboucq, Nicolas, Deschenes, Georges, Morin, Denis, Abad, Fanny, Luaute, Jacques, Bodenan, Eurielle, Roche, Laurent, Acquaviva, Cecile, Vianey-Saban, Christine, Cochat, Pierre, Cotton, Francois, Bertholet-Thomas, Aurelia

Volltext

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort von Piraud, Monique, Pettazzoni, Magali, de Antonio, Marie, Vianey-Saban, Christine, Froissart, Roseline, Chabrol, Brigitte, Young, Sarah, Laforêt, Pascal

Volltext