Soumeya Bekri

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 23

Top Topics

Replacement Therapy

Recombinant Human

Autism Spectrum Disorder

Top Venues

International journal of molecular sciences

Journal of personalized medicine

Journal of inherited metabolic disease

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S Kilberg
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency. International journal of molecular sciences 24 (1) (2022)
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S Kilberg
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency. International journal of molecular sciences 24 (1) (2022)
Ivana Dabaj, Adnan Hassani, Lydie Burglen, Leila Qebibo, Anne-Marie Guerrot, Stéphane Marret, Abdellah Tebani, Soumeya Bekri
Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review. Journal of clinical medicine 11 (15) (2022)
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S Kilberg
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency. International journal of molecular sciences 24 (1) (2022)
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S Kilberg
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency. International journal of molecular sciences 24 (1) (2022)
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S Kilberg
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency. International journal of molecular sciences 24 (1) (2022)
Wladimir Mauhin, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, Jonathan London, Claire Douillard, Bertrand Dussol, Vanessa Leguy-Seguin, Esther Noel, Agathe Masseau, Didier Lacombe, Hélène Maillard, Soumeya Bekri, Olivier Lidove, Olivier Benveniste
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. Journal of clinical medicine 11 (5) (2022)
Stephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S Kilberg
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency. International journal of molecular sciences 24 (1) (2022)
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, Sarah Snanoudj, Benedicte Heron, Thierry Levade, Catherine Caillaud, Sabrina Vergnaud, Pascale Saugier-Veber, Sophie Coutant, Hélène Dranguet, Roseline Froissart, Majed Al Khouri, Yves Alembik, Julien Baruteau, Jean-Baptiste Arnoux, Anais Brassier, Anne-Claire Brehin, Tiffany Busa, Aline Cano, Brigitte Chabrol, Christine Coubes, Isabelle Desguerre, Martine Doco-Fenzy, Bernard Drenou, Nursel H Elcioglu, Solaf Elsayed, Alain Fouilhoux, Céline Poirsier, Alice Goldenberg, Philippe Jouvencel, Alice Kuster, François Labarthe, Leila Lazaro, Samia Pichard, Serge Rivera, Sandrine Roche, Stéphanie Roggerone, Agathe Roubertie, Sabine Sigaudy, Marta Spodenkiewicz, Marine Tardieu, Catherine Vanhulle, Stéphane Marret, Soumeya Bekri
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Journal of medical genetics (2021)
Vianney Gilard, Abdellah Tebani, Ivana Dabaj, Annie Laquerrière, Florent Marguet, Stéphane Derrey, Stéphane Marret, Soumeya Bekri
Diagnosis and Management of Glioblastoma: A Comprehensive Perspective. Journal of personalized medicine 11 (4) (2021)
Nassim Boutouchent, Julie Bourilhon, Bénédicte Sudrié-Arnaud, Antoine Bonnevalle, Lucie Guyant-Maréchal, Cécile Acquaviva Bourdain, Loréna Dujardin-Ippolito, Soumeya Bekri, Ivana Dabaj, Abdellah Tebani
An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency. Diagnostics (Basel, Switzerland) 11 (9) (2021)
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale De Lonlay, Anaïs Brassier
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up. Orphanet journal of rare diseases 16 (1) (2021)
Vianney Gilard, Justine Ferey, Florent Marguet, Florent Marguet, Franklin Ducatez, Carine Pilon, Céline Lesueur, Tony Pereira, Carole Basset, Valentina Calabrese, Frédéric Di Fioré, Annie Laquerrière, Carlos Afonso, Stéphane Derrey, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Integrative Metabolomics Reveals Deep Tissue and Systemic Metabolic Remodeling in Glioblastoma. Cancers 13 (20) (2021)
Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, Lenaig Abily-Donval, Alice Goldenberg, Gajja S Salomons, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family. International journal of molecular sciences 22 (23) (2021)
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation. Life (Basel, Switzerland) 11 (3) (2021)
Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, Tony Pereira, Raphaël Aubert, Olivier Benveniste, Stéphane Marret, Olivier Lidove, Soumeya Bekri, Abdellah Tebani
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics. Journal of personalized medicine 11 (9) (2021)
Vianney Gilard, Stéphane Derrey, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Precision Neurosurgery: A Path Forward. Journal of personalized medicine 11 (10) (2021)
Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, Fanny Pelluard, Soumeya Bekri, Abdellah Tebani
An Atypical Case of Congenital Erythropoietic Porphyria. Genes 12 (11) (2021)
Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, Hélène Dranguet, Lenaig Abily-Donval, Axel Lebas, Myriam Vezain, Bénédicte Héron, Isabelle Marie, Marc Duval-Arnould, Stéphane Marret, Abdellah Tebani, Soumeya Bekri
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel. Diagnostics (Basel, Switzerland) 11 (2) (2021)
Abdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, Bénédicte Héron, Monique Piraud, Jérôme Ausseil, Farid Zerimech, Bruno Gonzalez, Stéphane Marret, Carlos Afonso, Soumeya Bekri
Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis. Journal of translational medicine 16 (1) (2018)
Abdellah Tebani, Carlos Afonso, Soumeya Bekri
Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome. Journal of inherited metabolic disease 41 (3) (2017)
Pascaline Gaildrat, Said Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, Guillaume Bollee, Hélène Tubeuf, Thomas Charles, Aurelia Bertholet-Thomas, Alice Goldenberg, Frederic Barbey, Alexandra Martins, Pascale Saugier-Veber, Thierry Frébourg, Bertrand Knebelmann, Soumeya Bekri
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. Molecular genetics & genomic medicine 5 (4) (2017)
Abdellah Tebani, Carlos Afonso, Soumeya Bekri
Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery. Journal of inherited metabolic disease 41 (3) (2017)