Хайлтын үр дүнгүүд - Vuillaumier‐Barrot, Sandrine

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

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

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