Works matching AU Sudrié-Arnaud, Bénédicte

Results: 10

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.

Published in:

Life (2075-1729), 2021, v. 11, n. 3, p. 187, doi. 10.3390/life11030187

By:

Dabaj, Ivana;
Sudrié-Arnaud, Bénédicte;
Lecoquierre, François;
Raymond, Kimiyo;
Ducatez, Franklin;
Guerrot, Anne-Marie;
Snanoudj, Sarah;
Coutant, Sophie;
Saugier-Veber, Pascale;
Marret, Stéphane;
Nicolas, Gaël;
Tebani, Abdellah;
Bekri, Soumeya;
Galindo, Carmen Espinós; Máximo Ibo;
Rodrigo, Regina

Publication type:

Article

An Atypical Case of Congenital Erythropoietic Porphyria.

Published in:

Genes, 2021, v. 12, n. 11, p. 1828, doi. 10.3390/genes12111828

By:

Sudrié-Arnaud, Bénédicte;
Legendre, Marine;
Snanoudj, Sarah;
Pelluard, Fanny;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Article

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12633, doi. 10.3390/ijms222312633

By:

Snanoudj, Sarah;
Torre, Stéphanie;
Sudrié-Arnaud, Bénédicte;
Abily-Donval, Lenaig;
Goldenberg, Alice;
Salomons, Gajja S.;
Marret, Stéphane;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Article

Acute Respiratory Infection Unveiling CPT II Deficiency.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 2950, doi. 10.3390/ijms19102950

By:

Blah, Nicolas;
Sudrié-Arnaud, Bénédicte;
Torre, Stéphanie;
Marret, Stéphane;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Article

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.

Published in:

2017

By:

Abily-Donval, Lenaig;
Torre, Stéphanie;
Samson, Aurélie;
Sudrié-Arnaud, Bénédicte;
Acquaviva, Cécile;
Guerrot, Anne-Marie;
Benoist, Jean-François;
Marret, Stéphane;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Case Study

Thrombin generation test as a marker for high risk venous thrombosis pregnancies.

Published in:

Journal of Thrombosis & Thrombolysis, 2018, v. 45, n. 1, p. 114, doi. 10.1007/s11239-017-1572-3

By:

Joly, Bérangère S.;
Sudrié-Arnaud, Bénédicte;
Barbay, Virginie;
Borg, Jeanne-Yvonne;
Le Cam Duchez, Véronique

Publication type:

Article

Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria.

Published in:

Clinical Chemistry, 2018, v. 64, n. 4, p. 752, doi. 10.1373/clinchem.2017.281246

By:

Grotto, Sarah;
Sudrié-Arnaud, Bénédicte;
Drouin-Garraud, Valérie;
Nafeh-Bizet, Catherine;
Chadefaux-Vekemans, Bernadette;
Gobin, Stéphanie;
Bekri, Soumeya;
Tebani, Abdellah

Publication type:

Article

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.

Published in:

2021

By:

Boutouchent, Nassim;
Bourilhon, Julie;
Sudrié-Arnaud, Bénédicte;
Bonnevalle, Antoine;
Guyant-Maréchal, Lucie;
Acquaviva, Cécile;
Dujardin-Ippolito, Loréna;
Bekri, Soumeya;
Dabaj, Ivana;
Tebani, Abdellah

Publication type:

Case Study

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 294, doi. 10.3390/diagnostics11020294

By:

Sudrié-Arnaud, Bénédicte;
Snanoudj, Sarah;
Dabaj, Ivana;
Dranguet, Hélène;
Abily-Donval, Lenaig;
Lebas, Axel;
Vezain, Myriam;
Héron, Bénédicte;
Marie, Isabelle;
Duval-Arnould, Marc;
Marret, Stéphane;
Tebani, Abdellah;
Bekri, Soumeya;
Millán, José

Publication type:

Article

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 373, doi. 10.1002/mgg3.294

By:

Gaildrat, Pascaline;
Lebbah, Said;
Tebani, Abdellah;
Sudrié‐Arnaud, Bénédicte;
Tostivint, Isabelle;
Bollee, Guillaume;
Tubeuf, Hélène;
Charles, Thomas;
Bertholet‐Thomas, Aurelia;
Goldenberg, Alice;
Barbey, Frederic;
Martins, Alexandra;
Saugier‐Veber, Pascale;
Frébourg, Thierry;
Knebelmann, Bertrand;
Bekri, Soumeya

Publication type:

Article