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Quintero J, Molera C, Juamperez J, Redecillas S, Meavilla S, Nuñez R, García-Volpe C, Del Toro M, Garcia-Cazorla Á, Ortega J, Segarra Ó, de Carpi JM, Bilbao I, Charco R. Quintero J, et al. Among authors: del toro m. Liver Transpl. 2019 Jan;25(1):178-179. doi: 10.1002/lt.25389. Liver Transpl. 2019. PMID: 30472769 No abstract available.
The Role of Liver Transplantation in Propionic Acidemia.
Quintero J, Molera C, Juamperez J, Redecillas S, Meavilla S, Nuñez R, García C, Del Toro M, Garcia Á, Ortega J, Segarra Ó, de Carpi JM, Bilbao I, Charco R. Quintero J, et al. Among authors: del toro m. Liver Transpl. 2018 Dec;24(12):1736-1745. doi: 10.1002/lt.25344. Liver Transpl. 2018. PMID: 30242960
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: del toro m. Orphanet J Rare Dis. 2021 Apr 30;16(1):195. doi: 10.1186/s13023-021-01784-7. Orphanet J Rare Dis. 2021. PMID: 33931066 Free PMC article.
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: del toro m. J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22. J Inherit Metab Dis. 2013. PMID: 23179554
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: del toro m. Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11. Mitochondrion. 2016. PMID: 26688339
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH; SHMT2 Working Group; Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A. García-Cazorla À, et al. Acta Neuropathol. 2020 Dec;140(6):971-975. doi: 10.1007/s00401-020-02223-w. Epub 2020 Oct 5. Acta Neuropathol. 2020. PMID: 33015733 Free PMC article. No abstract available.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, 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 M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. Among authors: del toro m. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 Free PMC article.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: del toro m. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: del toro m. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Among authors: del toro m. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.
138 results