Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.01.2017)
Published in Journal of inherited metabolic disease (01.01.2017)
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Assessing the landscape of STXBP1-related disorders in 534 individuals
Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo
Published in Brain (London, England : 1878) (03.06.2022)
Published in Brain (London, England : 1878) (03.06.2022)
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AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency
Tokatly Latzer, Itay, Hanson, Ellen, Bertoldi, Mariarita, García‐Cazorla, Àngeles, Tsuboyama, Melissa, MacMullin, Paul, Rotenberg, Alexander, Roullet, Jean‐Baptiste, Pearl, Phillip L., Gibson, K Michael, Arning, Erland, DiBacco, Melissa L, Aygun, Deniz, Sachee, Daniyal, Lee, Henry H C, Papadelis, Christos, Opladen, Thomas, Jeltsch, Kathrin, Warfield, Simon, Hoffman, Carolyn
Published in Developmental medicine and child neurology (01.12.2023)
Published in Developmental medicine and child neurology (01.12.2023)
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Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Hübschmann, Oya Kuseyri, Juliá‐Palacios, Natalia Alexandra, Olivella, Mireia, Guder, Philipp, Zafeiriou, Dimitrios I., Horvath, Gabriella, Kulhánek, Jan, Pearson, Toni S., Kuster, Alice, Cortès‐Saladelafont, Elisenda, Ibáñez, Salvador, García‐Jiménez, Maria Concepción, Honzík, Tomáš, Santer, René, Jeltsch, Kathrin, Garbade, Sven F., Hoffmann, Georg F., Opladen, Thomas, García‐Cazorla, Ángeles
Published in Annals of neurology (01.08.2022)
Published in Annals of neurology (01.08.2022)
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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
Pillai, Nishitha R., Yubero, Delia, Shayota, Brian J., Oyarzábal, Alfonso, Ghosh, Rajarshi, Sun, Qin, Azamian, Mahshid S., Arjona, Cesar, Brandi, Núria, Palau, Francesc, Lalani, Seema R., Artuch, Rafael, García‐Cazorla, Angeles, Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.12.2019)
Published in American journal of medical genetics. Part A (01.12.2019)
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Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods
Garcia-Arenas, Dolores, Barrau-Martinez, Blanca, Gonzalez-Rodriguez, Arnau, Llorach, Rafael, Campistol-Plana, Jaume, García-Cazorla, Angeles, Ormazabal, Aida, Urpi-Sarda, Mireia
Published in Nutrients (01.08.2023)
Published in Nutrients (01.08.2023)
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn E., Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Kölker, Stefan, Burgard, Peter, Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J., Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Bari, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L., Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri
Published in Journal of inherited metabolic disease (01.01.2019)
Published in Journal of inherited metabolic disease (01.01.2019)
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Journal Article
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Teles, Elisa Leão, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelaere, Dries, Couce, Maria L., Sykut-Cegielska, Jolanta, Häberle, Johannes, Lund, Allan M., Chakrapani, Anupam, Schiff, Manuel, Walter, John H., Zeman, Jiri, Vara, Roshni, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
López, Luis C., Akman, Hasan O., García-Cazorla, Ángeles, Dorado, Beatriz, Martí, Ramón, Nishino, Ichizo, Tadesse, Saba, Pizzorno, Giuseppe, Shungu, Dikoma, Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio
Published in Human molecular genetics (15.02.2009)
Published in Human molecular genetics (15.02.2009)
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Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo
Published in Orphanet journal of rare diseases (20.06.2018)
Published in Orphanet journal of rare diseases (20.06.2018)
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Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment
Tost, Ana, Migliorelli, Carolina, Bachiller, Alejandro, Medina-Rivera, Inés, Romero, Sergio, García-Cazorla, Ángeles, Mañanas, Miguel A
Published in Entropy (Basel, Switzerland) (11.08.2021)
Published in Entropy (Basel, Switzerland) (11.08.2021)
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Journal Article
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
Akman, Hasan O., Dorado, Beatriz, López, Luis C., García-Cazorla, Ángeles, Vilà, Maya R., Tanabe, Lauren M., Dauer, William T., Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio
Published in Human molecular genetics (15.08.2008)
Published in Human molecular genetics (15.08.2008)
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Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
Sánchez-Pintos, Paula, Meavilla, Silvia, López-Ramos, María Goretti, García-Cazorla, Ángeles, Couce, Maria L.
Published in Frontiers in pediatrics (15.08.2022)
Published in Frontiers in pediatrics (15.08.2022)
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Genetic disorders of cellular trafficking
García-Cazorla, Angeles, Oyarzábal, Alfonso, Saudubray, Jean-Marie, Martinelli, Diego, Dionisi-Vici, Carlo
Published in Trends in genetics (01.07.2022)
Published in Trends in genetics (01.07.2022)
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Journal Article
Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome
Tost, Ana, Bachiller, Alejandro, Medina-Rivera, Inés, Romero, Sergio, Serna, Leidy-Yanet, Rojas-Martínez, Monica, García-Cazorla, Ángeles, Mañanas, Miguel Ángel
Published in Pediatric research (16.07.2024)
Published in Pediatric research (16.07.2024)
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GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
Montero, Raquel, Yubero, Delia, Villarroya, Joan, Henares, Desiree, Jou, Cristina, Rodríguez, Maria Angeles, Ramos, Federico, Nascimento, Andrés, Ortez, Carlos Ignacio, Campistol, Jaume, Perez-Dueñas, Belen, O'Callaghan, Mar, Pineda, Mercedes, Garcia-Cazorla, Angeles, Oferil, Jaume Colomer, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia, Meznaric, Marija, Campderros, Laura, Kalko, Susana G, Villarroya, Francesc, Artuch, Rafael, Jimenez-Mallebrera, Cecilia
Published in PloS one (11.02.2016)
Published in PloS one (11.02.2016)
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