Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning

Autor: Briso-Montiano, Á., Vilas, A., Richard, E., Ruiz-Sala, P., Morato, E., Desviat, L.R., Ugarte, M., Rodríguez-Pombo, P., Pérez, B.

Publikováno v: In BBA - Molecular Basis of Disease 1 September 2022 1868(9)

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

Autor: Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner

Publikováno v: JIMD Reports, Vol 63, Iss 2, Pp 146-161 (2022)

Abstract We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarni

Externí odkaz: https://doaj.org/article/1b8b5ea5967a4cc4a9736f613e6e8269

VAMOS: a Pathfinder for the HAWC Gamma-Ray Observatory

Autor: Abeysekara, A. U., Alfaro, R., Alvarez, C., Álvarez, J. D., Ángeles, F., Arceo, R., Arteaga-Velázquez, J. C., Avila-Aroche, A., Solares, H. A. Ayala, Badillo, C., Barber, A. S., Baughman, B. M., Bautista-Elivar, N., Gonzalez, J. Becerra, Belmont, E., Benítez, E., BenZvi, S. Y., Berley, D., Bernal, A., Rosales, M. Bonilla, Braun, J., Caballero-Lopez, R. A., Caballero-Mora, K. S., Cabrera, I., Carramiñana, A., Castañeda-Martínez, L., Castillo, M., Cotti, U., Cotzomi, J., de la Fuente, E., De León, C., DeYoung, T., Diaz-Azuara, A., Diaz-Cruz, L., Hernandez, R. Diaz, Díaz-Vélez, J. C., Dingus, B. L., Dultzin, D., DuVernois, M. A., Ellsworth, R. W., Fernandez, A., Fiorino, D. W., Fraija, N., Galindo, A., García-Torales, G., Garfias, F., González, A., González, L. X., González, M. M., Goodman, J. A., Grabski, V., Gussert, M., Guzmán-Cerón, C., Hampel-Arias, Z., Harding, J. P., Hernández-Cervantes, L., Hui, C. M., Hüntemeyer, P., Imran, A., Iriarte, A., Karn, P., Kieda, D., Kunde, G. J., Langarica, R., Lara, A., Lara, G., Lauer, R. J., Lee, W. H., Lennarz, D., Vargas, H. León, Linares, E. C., Linnemann, J. T., Longo, M., Luna-Garcia, R., Marinelli, A., Martínez, L. A., Martínez, H., Martínez, O., Martínez-Castro, J., Martos, M., Matthews, J. A. J., McEnery, J., Torres, E. Mendoza, Miranda-Romagnoli, P., Moreno, E., Mostafá, M., Nava, J., Nellen, L., Newbold, M., Noriega-Papaqui, R., Oceguera-Becerra, T., Page, D. P., Patricelli, B., Pelayo, R., Pérez-Pérez, E. G., Pretz, J., Ramírez, I., Renter, A., Rivière, C., Rosa-González, D., Ruiz-Sala, F., Ruiz-Velasco, E. L., Ryan, J., Sacahui, J. R., Salazar, H., Salesa, F., Sandoval, A., Santos, E., Schneider, M., Silich, S., Sinnis, G., Smith, A. J., Woodle, K. Sparks, Springer, R. W., Suarez, F., Taboada, I., Tepe, A., Toale, P. A., Tollefson, K., Torres, I., Tinoco, S., Ukwatta, T. N., Galicia, J. F. Valdés, Vanegas, P., Vázquez, A., Villaseñor, L., Wall, W., Weisgarber, T., Westerhoff, S., Wisher, I. G., Wood, J., Yodh, G. B., Younk, P. W., Zaborov, D., Zepeda, A., Zhou, H.

VAMOS was a prototype detector built in 2011 at an altitude of 4100m a.s.l. in the state of Puebla, Mexico. The aim of VAMOS was to finalize the design, construction techniques and data acquisition system of the HAWC observatory. HAWC is an air-showe

Externí odkaz: http://arxiv.org/abs/1408.3477

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

Autor: Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix, Pedro Ruiz-Sala, Patricia Alcaide, Francisco Arrieta, Mercedes Martínez-Pardo

Publikováno v: Antioxidants, Vol 11, Iss 8, p 1588 (2022)

Propionic acidaemia (PA) is an innate error of metabolism involving a deficiency in the enzyme propionyl-CoA carboxylase. Better control of acute decompensation episodes together with better treatment and monitoring have improved the prognosis of pat

Externí odkaz: https://doaj.org/article/c63033fcc092491d91ac65c6d3af9b80

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

Autor: Casado Mecedes, Ferrer-López Isaac, Ruiz-Sala Pedro, Pérez-Cerdá Celia, Artuch Rafael

Publikováno v: Reviews in Analytical Chemistry, Vol 36, Iss 3, Pp 221-227 (2017)

This review discusses the development of capillary electrophoresis with laser-induced detection and mass spectrometry techniques for the analysis of urinary oligosaccharides to screen for human oligosaccharidoses and related disorders. Capillary elec

Externí odkaz: https://doaj.org/article/3676313568cb400cb8c1c29634546613