On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation von Tello, C., Darling, A., Lupo, V., Pérez‐Dueñas, B., Espinós, C.

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Twin‐sisters with PLA2G6‐associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization von Tello, C., Darling, A., Lupo, V., Ortez, C.I., Pérez‐Dueñas, B., Espinós, C.

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Mental retardation and inborn errors of metabolism von García-Cazorla, A., Wolf, N. I., Serrano, M., Moog, U., Pérez-Dueñas, B., Póo, P., Pineda, M., Campistol, J., Hoffmann, G. F.

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Inborn errors of metabolism and motor disturbances in children von García-Cazorla, A, Wolf, N. I, Serrano, M, Pérez-Dueñas, B, Pineda, M, Campistol, J, Fernández-Alvarez, E, Colomer, J, DiMauro, S, Hoffmann, G. F

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21204. SÍNDROME NEURO-OCULAR ASOCIADO A DAGLA COMO MIMIC DE ATAXIA EPISÓDICA TIPO 2 (CACNA1A) von Sainz Torres, R., Pérez Dueñas, B.

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Secondary abnormalities of neurotransmitters in infants with neurological disorders von García‐Cazorla, A, Serrano, M, Pérez‐Dueñas, B, González, V, Ormazábal, A, Pineda, M, Fernández‐álvarez, E, Campistol, J M D, Artuch, R M D

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Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients von de la Morena-Barrio, M.E, Di Michele, M, Lozano, M.L, Rivera, J, Pérez-Dueñas, B, Altisent, C, Sevivas, T, Vicente, V, Jaeken, J, Freson, K, Corral, J

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Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency von Urreizti, R, Moya-García, AA, Pino-Ángeles, A, Cozar, M, Langkilde, A, Fanhoe, U, Esteves, C, Arribas, J, Vilaseca, MA, Pérez-Dueñas, B, Pineda, M, González, V, Artuch, R, Baldellou, A, Vilarinho, L, Fowler, B, Ribes, A, Sánchez-Jiménez, F, Grinberg, D, Balcells, S

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Global and regional volume changes in the brains of patients with phenylketonuria von PEREZ-DUENAS, B, PUJOL, J, SORIANO-MAS, C, ORTIZ, H, ARTUCH, R, VILASECA, M. A, CAMPISTOL, J

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Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations von Pérez-Dueñas, B, García-Cazorla, A, Pineda, M, Poo, P, Campistol, J, Cusí, V, Schollen, E, Matthijs, G, Grunewald, S, Briones, P, Pérez-Cerdá, C, Artuch, R, Vilaseca, M.A

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Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria von Espinós, C, García-Cazorla, A, Martínez-Rubio, D, Martínez-Martínez, E, Vilaseca, MA, Pérez-Dueñas, B, Kožich, V, Palau, F, Artuch, R

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Hypokinetic-rigid syndrome in children and inborn errors of metabolism von García-Cazorla, A, Ortez, C, Pérez-Dueñas, B, Serrano, M, Pineda, M, Campistol, J, Fernández-Álvarez, E

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Perinatal asphyxia may cause reduction in CSF dopamine metabolite concentrations von SERRANO, M, ORMAZABAL, A, PEREZ-DUENAS, B, ARTUCH, R, COROLEU, W, KRAUEL, X, CAMPISTOL, J, GARCIA-CAZORLA, A

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Characterization of tremor in phenylketonuric patients von PEREZ-DUENAS, Belén, VALLS-SOLE, Josep, FERNANDEZ-ALVAREZ, Emilio, CONILL, Joan, VILASECA, Maria Antonia, ARTUCH, Rafael, CAMPISTOL, Jaume

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Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment von Ormazabal, A., Vilaseca, M. A., Pérez‐Dueñas, B., Lambruschini, N., Gómez, L., Campistol, J., Artuch, R.

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Quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase deficiency (PMM2-CDG) von Serrano, N.L, Cuadras, D, de Diego, V, Martínez-Monseny, A.F, Velázquez-Fragua, R, López, L, Felipe, A, Miranda, M.C, Carratala, F, Couce, M.L, Gutierrez-Solana, L.G, Macaya, A, Muchart, J, Montero, R, Artuch, R, Pérez-Cerdá, C, Pérez, B, Itzep, D, Pérez-Dueñas, B, Serrano, M

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OP7 – 2635: Does SLC19A3 expression analysis predict thiamine responsiveness? von Escobar, J.D. Ortigoza, Jou, C, Oyarzabal, A, Soto, R. Blanco, Pereira, J. Marquez, Ferrer, I, Rodriguez-Pombo, P, Pérez-Dueñas, B

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Clinical, radiological and genetic characterization of PLA2G6-associated neurodegeneration von Darling, A, Aguilera Albesa, S, Tomás Vila, M, Camino León, R, Fernández Ramos, J, Jimenez Escrig, A, O'Callaghan, M, Ortez, C, Nascimento, A, Candau Fernández Mesaque, R, Madruga, M, Arrabal, L, Roldan, S, Garrido, C, Tello, C.A, Lupo, V, Huisman, T.A.G.M, Poretti, A, Espinós, C, Pérez Dueñas, B

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) von Serrano, M, de Diego, V, Martínez-Montseny, A.F, Cuadras, D, Muchart, J, Velázquez-Fragua, R, López, L, Gutiérrez-Solana, L.G, Felipe, A, Macaya, A, Cancho, R, Carrasco, M.Ll, Carratalá, F, Miranda, M.C, Lopez-Laso, E, Sierra-Córcoles, M.C, Couce, M.L, Quijada-Fraile, P, García, O, Pérez-Dueñas, B, Poretti, A

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OP9 – 2583: Phosphomanomutase deficiency (PMM2-CDG): Assessment of cerebellar dysfunction through ICARS von De Diego, V, Serrano, M, Muchart, J, Felipe, A, Macaya, A, Velázquez, R, Póo, P, Fons, C, O'Callaghan, M, García-Cazorla, A, Boix, C, Robles, B, Carratalá, F, Girós, M, Artuch, R, Pérez-Cerdá, C, Pérez, B, Pérez-Dueñas, B

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