खोज परिणाम - Vuillaumier‐Barrot, Sandrine

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

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Increased carbohydrate deficient transferrin: Whisky or candy? द्वारा 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 द्वारा Kraoua, Ichraf, Benrhouma, Hanene, Vuillaumier‐Barrot, Sandrine, Klaa, Hedia, Youssef‐Turki, Ilhem Ben

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Expanding the Spectrum of PMM2-CDG Phenotype द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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 द्वारा 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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