Publicacions
-
Kožich V, Schwahn BC, Sokolová J, Krížková M, Ditroi T, Krijt J, Khalil Y, Krížek T, Vaculíková-Fantlová T, Stiburková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, Garcia-Cazorla A, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G and Nagy P.
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
REDOX BIOLOGY . 58: 102517-102517. Nº de cites: 6
-
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pias-Peleteiro LD, Català-Mora J, Bolasell M, Torella A, Nigro V, Zanni G and Brunetti-Pierri N.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(10): 3032-3040. Nº de cites: 1
-
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla-Olivas SM, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de los Santos MM, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M and Bellusci M.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Journal of Clinical Medicine . 11(17): 5045.
-
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
-
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
-
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
-
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
-
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
-
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
-
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