Increased carbohydrate deficient transferrin: Whisky or candy?

por Giguet, Baptiste, Bruneel, Arnaud, Vuillaumier Barrot, Sandrine, Moirand, Romain, Bardou Jacquet, Edouard
Publicado 2022

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

por Sabry, S., Vuillaumier-Barrot, S., Mintet, E., Fasseu, M., Valayannopoulos, V., Héron, D., Dorison, N., Mignot, C., Seta, N., Chantret, I., Dupré, T., Moore, S. E. H.
Publicado 2016

MAN1B1-CDG: Three new individuals and associated biochemical profiles

por 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
Publicado 2021

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

por 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
Publicado 2017

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

por 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
Publicado 2021

GGPS1 ‐associated muscular dystrophy with and without hearing loss

por Kaiyrzhanov, Rauan, Perry, Luke, Rocca, Clarissa, Zaki, Maha S., Hosny, Heba, Araujo Martins Moreno, Cristiane, Phadke, Rahul, Zaharieva, Irina, Camelo Gontijo, Clara, Beetz, Christian, Pini, Veronica, Movahedinia, Mojtaba, Zanoteli, Edmar, DiTroia, Stephanie, Vuillaumier‐Barrot, Sandrine, Isapof, Arnaud, Mehrjardi, Mohammad Yahya Vahidi, Ghasemi, Nasrin, Sarkozy, Anna, Muntoni, Francesco, Whalen, Sandra, Vona, Barbara, Houlden, Henry, Maroofian, Reza
Publicado 2022