Publicacions
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Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, Garcia-Cazorla A, Julià-Palacios NA, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB and Pearl PL.
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism
MOLECULAR GENETICS AND METABOLISM . 144(3): 109051-109051.
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Villarrubia J, Morales M, Ceberio L, Vitoria I, Bellusci M, Quiñones I, Peña L, Ruiz de Valbuena M and O'Callaghan-Gordo M.
Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD Study.
Revista clinica espanola . 225(2): 70-77.
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Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): .
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Gimeno-Agud H, Díaz-Osorio Y and De Oyarzabal-Sanz AL.
Biological Basis of Cell Trafficking: A General Overview.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Nº de cites: 1
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Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.
MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
Diagnostics . 15(1): .
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Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.
Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.
research square . : .
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Schoenmakers, DH, Beerepoot, S, Adang, LA, Asbreuk, MABC, Bergner, CG, Bley, AE, Boelens, JJ, Calbi, V, Darling A, Eklund, E, Cazorla, AG, Gronborg, SW, Groeschel, S, van Hasselt, PM, Hollak, CEM, Horgan, C, Jones, S, de Koning, T, Laugwitz, L, Lindemans, C, Martin, P, Mochel, F, Oberg, A, Ram, D, Sevin, C, Schöls, L, Zerem, A, Wolf, N and Fumagalli, F.
Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
PROTEIN & CELL . 16(1): 12-15.
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de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla-Olivas SM, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R and Quintero J.
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Nutrients . 16(24): .
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Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan-Gordo M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A and Brunetti-Pierri N.
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.
Med (New York, N.Y.) . : 100544-100544.
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Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.
Extra-temporal pediatric low-grade gliomas and epilepsy
CHILDS NERVOUS SYSTEM . 40(10): 3309-3327.