نتائج البحث - Vuillaumier‐Barrot, Sandrine

A Cause of Permanent Ketosis: GLUT-1 Deficiency حسب Chenouard, Alexis, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, Kuster, Alice

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Increased carbohydrate deficient transferrin: Whisky or candy? حسب Giguet, Baptiste, Bruneel, Arnaud, Vuillaumier Barrot, Sandrine, Moirand, Romain, Bardou Jacquet, Edouard

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A Case of Progressive Chorea Resulting From GLUT1 Deficiency حسب Kraoua, Ichraf, Benrhouma, Hanene, Vuillaumier‐Barrot, Sandrine, Klaa, Hedia, Youssef‐Turki, Ilhem Ben

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Expanding the Spectrum of PMM2-CDG Phenotype حسب Vuillaumier-Barrot, Sandrine, Isidor, Bertrand, Dupré, Thierry, Le Bizec, Christiane, David, Albert, Seta, Nathalie

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Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood حسب Roubergue, Anne, Philibert, Bertrand, Gautier, Agnès, Kuster, Alice, Markowicz, Karine, Billette de Villemeur, Thierry, Vuillaumier-Barrot, Sandrine, Nicole, Sophie, Roze, Emmanuel, Doummar, Diane

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MAN1B1-CDG: Three new individuals and associated biochemical profiles حسب Sakhi, Soraya, Cholet, Sophie, Wehbi, Samer, Isidor, Bertrand, Cogne, Benjamin, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Detleft, Trost, Schmitt, Emmanuelle, Leheup, Bruno, Bonnet, Céline, Feillet, François, Muti, Christine, Fenaille, François, Bruneel, Arnaud

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SLC37A4-CDG: new biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy حسب Raynor, Alexandre, Haouari, Walid, Ng, Bobby G., Cholet, Sophie, Harroche, Annie, Raulet-Bussian, Celia, Lounis-Ouaras, Samra, Vuillaumier-Barrot, Sandrine, Pascreau, Tiffany, Borgel, Delphine, Freeze, Hudson H., Fenaille, François, Bruneel, Arnaud

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Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene حسب Clarke, Nigel F, Maugenre, Svetlana, Vandebrouck, Aurélie, Urtizberea, J Andoni, Willer, Tobias, Peat, Rachel A, Gray, Françoise, Bouchet, Céline, Manya, Hiroshi, Vuillaumier-Barrot, Sandrine, Endo, Tamao, Chouery, Eliane, Campbell, Kevin P, Mégarbané, André, Guicheney, Pascale

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Mutations in SLC2A2 Gene Reveal hGLUT2 Function in Pancreatic β Cell Development حسب Michau, Aurélien, Guillemain, Ghislaine, Grosfeld, Alexandra, Vuillaumier-Barrot, Sandrine, Grand, Teddy, Keck, Mathilde, L'Hoste, Sébastien, Chateau, Danielle, Serradas, Patricia, Teulon, Jacques, De Lonlay, Pascale, Scharfmann, Raphaël, Brot-Laroche, Edith, Leturque, Armelle, Le Gall, Maude

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome حسب Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny

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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation حسب Čechová, Anna, Altassan, Ruqaiah, Borgel, Delphine, Bruneel, Arnaud, Correia, Joana, Girard, Muriel, Harroche, Annie, Kiec-Wilk, Beata, Mohnike, Klaus, Pascreau, Tiffany, Pawliński, Łukasz, Radenkovic, Silvia, Vuillaumier-Barrot, Sandrine, Aldamiz-Echevarria, Luis, Couce, Maria Luz, Martins, Esmeralda G., Quelhas, Dulce, Morava, Eva, de Lonlay, Pascale, Witters, Peter, Honzík, Tomáš

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High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia حسب Ebrahimi-Fakhari, Darius, Alecu, Julian E, Brechmann, Barbara, Ziegler, Marvin, Eberhardt, Kathrin, Jumo, Hellen, D’Amore, Angelica, Habibzadeh, Parham, Faghihi, Mohammad Ali, De Bleecker, Jan L, Vuillaumier-Barrot, Sandrine, Auvin, Stéphane, Santorelli, Filippo M, Neuser, Sonja, Popp, Bernt, Yang, Edward, Barrett, Lee, Davies, Alexandra K, Saffari, Afshin, Hirst, Jennifer, Sahin, Mustafa

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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly حسب Vuillaumier-Barrot, Sandrine, Bouchet-Séraphin, Céline, Chelbi, Malika, Devisme, Louise, Quentin, Samuel, Gazal, Steven, Laquerrière, Annie, Fallet-Bianco, Catherine, Loget, Philippe, Odent, Sylvie, Carles, Dominique, Bazin, Anne, Aziza, Jacqueline, Clemenson, Alix, Guimiot, Fabien, Bonnière, Maryse, Monnot, Sophie, Bole-Feysot, Christine, Bernard, Jean-Pierre, Loeuillet, Laurence, Gonzales, Marie, Socha, Koryna, Grandchamp, Bernard, Attié-Bitach, Tania, Encha-Razavi, Férechté, Seta, Nathalie

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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction حسب Ng, Bobby G., Sosicka, Paulina, Fenaille, François, Harroche, Annie, Vuillaumier-Barrot, Sandrine, Porterfield, Mindy, Xia, Zhi-Jie, Wagner, Shannon, Bamshad, Michael J., Vergnes-Boiteux, Marie-Christine, Cholet, Sophie, Dalton, Stephen, Dell, Anne, Dupré, Thierry, Fiore, Mathieu, Haslam, Stuart M., Huguenin, Yohann, Kumagai, Tadahiro, Kulik, Michael, McGoogan, Katherine, Michot, Caroline, Nickerson, Deborah A., Pascreau, Tiffany, Borgel, Delphine, Raymond, Kimiyo, Warad, Deepti, Flanagan-Steet, Heather, Steet, Richard, Tiemeyer, Michael, Seta, Nathalie, Bruneel, Arnaud, Freeze, Hudson H.

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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings حسب Wilson, Matthew P., Garanto, Alejandro, Pinto e Vairo, Filippo, Ng, Bobby G., Ranatunga, Wasantha K., Ventouratou, Marina, Baerenfaenger, Melissa, Huijben, Karin, Thiel, Christian, Ashikov, Angel, Keldermans, Liesbeth, Souche, Erika, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Michelakakis, Helen, Fiumara, Agata, Pitt, James, White, Susan M., Lim, Sze Chern, Gallacher, Lyndon, Peters, Heidi, Rymen, Daisy, Witters, Peter, Ribes, Antonia, Morales-Romero, Blai, Rodríguez-Palmero, Agustí, Ballhausen, Diana, de Lonlay, Pascale, Barone, Rita, Janssen, Mirian C.H., Jaeken, Jaak, Freeze, Hudson H., Matthijs, Gert, Morava, Eva, Lefeber, Dirk J.

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