Publicaciones
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Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Nº de citas: 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 citas: 2
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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): . Nº de citas: 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.
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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. Nº de citas: 1
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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): . Nº de citas: 4
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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. Nº de citas: 1
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Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra-Checa A, Ramos F, Legius E, Moll HA, Elgersma Y and de Wit MY.
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : 537-549. Nº de citas: 4
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication
CLINICAL CHEMISTRY . 70(12): 1443-1451. Nº de citas: 2
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Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA and Ortigoza-Escobar JD.
Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 52: 10-19. Nº de citas: 3
