Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Sarah Snanoudj"'
Autor:
Sarah Snanoudj, Céline Derambure, Cheng Zhang, Nguyen Thi Hai Yen, Céline Lesueur, Sophie Coutant, Lénaïg Abily-Donval, Stéphane Marret, Hong Yang, Adil Mardinoglu, Soumeya Bekri, Abdellah Tebani
Publikováno v:
Heliyon, Vol 10, Iss 14, Pp e34357- (2024)
Fabry disease (FD) is an X-linked lysosomal disease caused by an enzyme deficiency of alpha-galactosidase A (α-gal A). This deficiency leads to the accumulation of glycosphingolipids in lysosomes, resulting in a range of clinical symptoms. The compl
Externí odkaz:
https://doaj.org/article/98f4d6744b8c48ab8fb74841335491bb
Autor:
Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 1, p 559 (2022)
Asparagine Synthetase Deficiency (ASNSD) is a disease caused by mutations in asparagine synthetase (ASNS). Newborns exhibit microcephaly, intractable epileptic-like seizures, progressive brain atrophy, and axial hypotonia. ASNSD results in global dev
Externí odkaz:
https://doaj.org/article/692279fbaccb45ba8e7304a853ad8a97
Autor:
Sarah Snanoudj, Stéphanie Torre, Bénédicte Sudrié-Arnaud, Lenaig Abily-Donval, Alice Goldenberg, Gajja S. Salomons, Stéphane Marret, Soumeya Bekri, Abdellah Tebani
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 23, p 12633 (2021)
Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA decarboxylase deficiency. This enzyme is encoded by the MLYCD (Malonyl-CoA Decarboxylase) gene, and the disease has an autosomal recessive inheritance. Malonic acidur
Externí odkaz:
https://doaj.org/article/390aec9d99454087bfe3bfbf40d3de21
Autor:
Sarah Snanoudj, Patrick Mordel, Quentin Dupas, Cécile Schanen, Alina Arion, Marion Gérard, Marie‐Hélène Read, Djamel Nait Rabah, Didier Goux, Françoise Chapon, Mickael Jokic, Stéphane Allouche
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background MEGDHEL is an autosomal recessive syndrome defined as 3‐MEthylGlutaconic aciduria (3‐MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh‐like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Ser
Externí odkaz:
https://doaj.org/article/3ca1653803314988b658b62d21a61ea1
Autor:
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
Publikováno v:
Diagnostics, Vol 11, Iss 2, p 294 (2021)
Diagnosis of lysosomal disorders (LDs) may be hampered by their clinical heterogeneity, phenotypic overlap, and variable age at onset. Conventional biological diagnostic procedures are based on a series of sequential investigations and require multip
Externí odkaz:
https://doaj.org/article/4764e4163ff54fe0adc720d1a3774f8f
Autor:
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
Publikováno v:
Life, Vol 11, Iss 3, p 187 (2021)
NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequenc
Externí odkaz:
https://doaj.org/article/c93a77fd112040858a0f105c6bb0c938
Autor:
Thouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, Hedia Klaa, Hanene Benrhouma, Aida Rouissi, Catherine Caillaud, Myriam Chaabouni, Najoua Miladi, Soumeya Bekri, Ilhem Ben Youssef‐Turki
Publikováno v:
Clinical Genetics. 102:157-160
Our study included 13 patients diagnosed with neuronal ceroidlipofuscinosis. It is a group of rare genetically-determined neurodegenerativediseases characterized by clinical and genetic heterogeneity. brain MRI andelectroencephalogram facilitate diag
Autor:
Tiffany Busa, Anaïs Brassier, Agathe Roubertie, Bénédicte Héron, M. Tardieu, Stéphane Marret, Roseline Froissart, Martine Doco-Fenzy, Céline Poirsier, Stéphanie Torre, Serge Rivera, Ivana Dabaj, Sabrina Vergnaud, Julien Baruteau, Marta Spodenkiewicz, Jean-Baptiste Arnoux, Bénédicte Sudrié-Arnaud, Brigitte Chabrol, Abdellah Tebani, Solaf M. Elsayed, Catherine Vanhulle, Sarah Snanoudj, Anne-Claire Brehin, Pascale Saugier-Veber, Aline Cano, Hélène Dranguet, Thierry Levade, Alice Goldenberg, Samia Pichard, Alice Kuster, Catherine Caillaud, Majed Al Khouri, Yves Alembik, Stéphanie Roggerone, Isabelle Desguerre, Nursel Elcioglu, François Labarthe, Sophie Coutant, Philippe Jouvencel, Bernard Drenou, Sandrine Roche, Laur Domitille, Alain Fouilhoux, Sabine Sigaudy, Christine Coubes, Soumeya Bekri, Leila Lazaro
Publikováno v:
Journal of Medical Genetics. 59:377-384
IntroductionThis study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).MethodsClinical and genet
Autor:
Steven J. Gray, Sarah Snanoudj-Verber, Laura Pollard, Yuhui Hu, Sara Cathey, Ritva Tikkanen, Xin Chen
Publikováno v:
Molecular Therapy. 29:989-1000
Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disease caused by loss of the enzyme aspartylglucosaminidase (AGA), resulting in AGA substrate accumulation. AGU patients have a slow but progressive neurodegenerative disease c
Autor:
Bénédicte Sudrié-Arnaud, Henri Daniel Lathro, Sarah Snanoudj-Verber, Abdellah Tebani, Soumeya Bekri
Publikováno v:
Annales de Biologie Clinique. 79:83-87
The order no. 2010-49 of January 13, 2010 has made the accreditation of medical biology laboratories in France mandatory. It is based on international standards: NF EN ISO 15189 for medical biology laboratories and NF EN ISO 22870 for point-of-care t