Publicaciones
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Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla-Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortés-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de los Santos MM, Garcia-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M and Quijada-Fraile P.
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry
Nutrients . 17(7): .
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Garcia-Cazorla A, Morava, E and Saudubray, JM.
"Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs"
JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): . Nº de citas: 1
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Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA and Vanderver AL.
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
MOLECULAR GENETICS AND METABOLISM . 144(3): 109048-109048. Nº de citas: 1
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Santos-Gómez A, Julià-Palacios NA, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, Garcia-Cazorla A and Altafaj X.
Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): . Nº de citas: 1
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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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Tost A, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Serna LY, Rojas M, Garcia-Cazorla A and Mañanas MA.
Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome
PEDIATRIC RESEARCH . 97(2): 751-762. Nº de citas: 1
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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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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): . 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