Publicacions
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Sánchez-Pintos P, Meavilla-Olivas SM, López-Ramos MG, Garcia-Cazorla A and Couce ML.
Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
Frontiers in pediatrics . 10: 969741-969741. Nº de cites: 1
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Wu V, Tillner J, Jones E, McKenzie JS, Gurung D, Mroz A, Poynter L, Simon D, Grau-Páez C, Altafaj X, Dumas ME, Gilmore I, Bunch J and Takats Z.
High Resolution Ambient MS Imaging of Biological Samples by Desorption Electro-Flow Focussing Ionization
ANALYTICAL CHEMISTRY . 94(28): 10035-10044. Nº de cites: 5
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Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla-Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V and Kölker S.
Postauthorization safety study of betaine anhydrous
JOURNAL OF INHERITED METABOLIC DISEASE . 45(4): 719-733. Nº de cites: 4
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Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J and Garcia-Cazorla A.
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Neuroradiology . 64(11): 2179-2190. Nº de cites: 2
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Kuseyri Hübschmann O, Julià-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortés-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T and Garcia-Cazorla A.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
ANNALS OF NEUROLOGY . 92(2): 292-303. Nº de cites: 2
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Olivé G, Slušná D, Vaquero L, Muchart-Lopez J, Rodríguez-Fornells A and Hinzen W.
Structural connectivity in ventral language pathways characterizes non-verbal autism
BRAIN STRUCTURE & FUNCTION . 227(5): 1817-1829. Nº de cites: 3
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Candela-Cantó SA, Muchart-Lopez J, Ramírez-Camacho A, Becerra V, Alamar AM, Pascual A, Forero C, Rebollo M, Munuera-del Cerro JL, Aparicio J, Rumià J and Hinojosa J.
Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results
JOURNAL OF NEUROSURGERY-PEDIATRICS . 29(6): 681-692. Nº de cites: 7
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Garcia-Cazorla A, De Oyarzabal-Sanz AL, Saudubray JM, Martinelly D and Dionisi-Vici C.
Genetic disorders of cellular trafficking
TRENDS IN GENETICS . 38(7): 724-751. Nº de cites: 15
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Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de cites: 1
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Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Koenig MK, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T and De Vivo D.
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome
Epilepsia . 63(7): 1748-1760. Nº de cites: 8