COG1‐congenital disorders of glycosylation: Milder presentation and review by Salazar, Marne, Miyake, Noriko, Silva, Sebastián, Solar, Benjamín, Papazoglu, Gabriela M., Asteggiano, Carla G., Matsumoto, Naomichi

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MAN1B1 deficiency: an unexpected CDG-II by Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

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Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1 by Ng, Bobby G., Asteggiano, Carla G., Kircher, Martin, Buckingham, Kati J., Raymond, Kimiyo, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Ensslen, Matthias, Freeze, Hudson H.

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MAN1B1 Deficiency: An Unexpected CDG-II: e1003989 by Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

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MAN1B1 deficiency: an unexpected CDG-II by Rymen, Daisy, Peanne, Romain, Million, Maria B, Race, Valerie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie- Cecile, Goncalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, Francois, Matthijs, Gert

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Hallazgos clínicos y moleculares de la exostosis múltiple hereditaria by Cammarata-Scalisi, Francisco, Balcells, Susana, Asteggiano, Carla G, Bracho, Ana, Sánchez, Yanira, Delgado-Luengo, Wilmer, Zara-Chirinos, Carmen, Chacín, José Antonio

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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Grinberg, D.

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A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG by Delgado, M. A., Martinez-Domenech, G., Sarrión, P., Urreizti, R., Zecchini, L., Robledo, H. H., Segura, F., de Kremer, R. Dodelson, Balcells, S., Grinberg, D., Asteggiano, C. G.

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions by Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Miller, Rebecca, Monaghan, Kristin G., Nickerson, Deborah A., Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A., Scheffer, Ingrid E., Schenone, Andrea Beatriz, Schnur, Rhonda E., Si, Yue, Rowe, Leah J., Serrano Russi, Alvaro H., Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y., Webster, Richard I., Wilson, Dorcas, Zalan, Alice, Wolfe, Lynne A., Rosenfeld, Jill A., Rhodes, Lindsay, Freeze, Hudson H.

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Regulation of Phosphatidylinositol-4,5-Biphosphate Bound to the Bovine Cardiac Na+/Ca2+ Exchanger by BEAUGÉ, LUIS, ASTEGGIANO, CARLA, BERBERIÁN, GRACIELA

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ATP Stimulation of Na+/Ca2+ Exchanger in Bovine Brain Membrane Vesicles Is Similar to That of the Heart and Independent of Ionic Strength of Assay or Preparation by BERBERIÁN, GRACIELA, ASTEGGIANO, CARLA, PHAM, CUONG

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MgATP and phosphoinositides activate Na+/Ca2+ exchange in bovine brain vesicles. Comparison with other Na+/Ca2+ exchangers by Berberián, Graciela, Asteggiano, Carla, Pham, Cuong, Roberts, Shirley, Beaugé, Luis

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