Publications
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Tristan-Noguero A, Fernández Carasa I, Calatayud Aristoy C, Bermejo-Casadesús C, Marina Pons Espinal, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch-Iriberri R, Raya Á, Garcia-Cazorla A and Consiglio A.
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
EMBO Molecular Medicine . 15(3): . Number of citations: 3
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Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch-Iriberri R, Pias-Peleteiro LD, Garcia-Cazorla A, Baric I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM and Willemsen MAAP.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit
JOURNAL OF INHERITED METABOLIC DISEASE . 46(1): 66-75. Number of citations: 9
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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. Number of citations: 14
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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. Number of citations: 2
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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. Number of citations: 1
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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. Number of citations: 6
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Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
CLINICAL GENETICS . 102(1): 40-55. Number of citations: 4
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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. Number of citations: 12
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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. Number of citations: 29
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Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Number of citations: 5