Search Results - "Cazorla, Ángeles García"

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis by Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter

“…Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by…”
Get full text

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency by Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, Knaap, Marjo S., Maroofian, Reza, Houlden, Henry

“…Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate…”
Get full text

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies by Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S, Sivri, H Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A, Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F, Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M, Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya

“…Tetrahydrobiopterin (BH ) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine…”
Get full text

Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism by Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas

“…Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition…”
Get full text

Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model by Jung‐KC, Kunwar, Tristán‐Noguero, Alba, Altankhuyag, Altanchimeg, Piñol Belenguer, David, Prestegård, Karina S., Fernandez‐Carasa, Irene, Colini Baldeschi, Arianna, Sigatulina Bondarenko, Maria, García‐Cazorla, Angeles, Consiglio, Antonella, Martinez, Aurora

“…Proteostatic regulation of tyrosine hydroxylase (TH), the rate‐limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain…”
Get full text

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients by Kuseyri Hübschmann, Oya, Mohr, Alexander, Friedman, Jennifer, Manti, Filippo, Horvath, Gabriella, Cortès‐Saladelafont, Elisenda, Mercimek‐Andrews, Saadet, Yildiz, Yilmaz, Pons, Roser, Kulhánek, Jan, Oppebøen, Mari, Koht, Jeanette Aimee, Podzamczer‐Valls, Inés, Domingo‐Jimenez, Rosario, Ibáñez, Salvador, Alcoverro‐Fortuny, Oscar, Gómez‐Alemany, Teresa, Castro, Pedro, Alfonsi, Chiara, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Guder, Philipp, Santer, René, Honzík, Tomáš, Hoffmann, Georg F., Garbade, Sven F., Sivri, H. Serap, Leuzzi, Vincenzo, Jeltsch, Kathrin, García‐Cazorla, Angeles, Opladen, Thomas, Harting, Inga

“…Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement…”
Get full text

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns by Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ãngeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

“…Abstract Background Alteration of vitamin B 12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and…”
Get full text

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns by Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de Los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

Get full text

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry by Keller, Mareike, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Manti, Filippo, Julia Palacios, Natalia Alexandra, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet‐Na, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano‐Lomelin, Jesus, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès‐Saladelafont, Elisenda, Fernández Ramos, Joaquín Alejandro, García‐Cazorla, Angeles, Hoffmann, Georg F., Kiat Hong, Stacey Tay, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A., Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek‐Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S., Sivri, H. Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk‐Wing

“…Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of…”
Get full text

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency by 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

“…Background Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of…”
Get full text

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians by Saudubray, Jean‐Marie, Mochel, Fanny, Lamari, Foudil, Garcia‐Cazorla, Angeles

“…In view of the rapidly expanding number of IMD discovered by next generation sequencing, we propose a simplified classification of IMD that mixes elements from…”
Get full text

Assessing the landscape of STXBP1-related disorders in 534 individuals by 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

“…Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related…”
Get full text

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients by 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

“…Aromatic l‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of…”
Get full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype by 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

“…Background The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims…”
Get full text

L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study by Juliá-Palacios, Natalia, Olivella, Mireia, Sigatullina Bondarenko, Mariya, Ibáñez-Micó, Salvador, Muñoz-Cabello, Beatriz, Alonso-Luengo, Olga, Soto-Insuga, Víctor, García-Navas, Deyanira, Cuesta-Herraiz, Laura, Andreo-Lillo, Patricia, Aguilera-Albesa, Sergio, Hedrera-Fernández, Antonio, González Alguacil, Elena, Sánchez-Carpintero, Rocío, Martín Del Valle, Fernando, Jiménez González, Erika, Cean Cabrera, Lourdes, Medina-Rivera, Ines, Perez-Ordoñez, Marta, Colomé, Roser, Lopez, Laura, Engracia Cazorla, María, Fornaguera, Montserrat, Ormazabal, Aida, Alonso-Colmenero, Itziar, Illescas, Katia Sofía, Balsells-Mejía, Sol, Mari-Vico, Rosanna, Duffo Viñas, Maria, Cappuccio, Gerarda, Terrone, Gaetano, Romano, Roberta, Manti, Filippo, Mastrangelo, Mario, Alfonsi, Chiara, de Siqueira Barros, Bruna, Nizon, Mathilde, Gjerulfsen, Cathrine Elisabeth, Muro, Valeria L, Karall, Daniela, Zeiner, Fiona, Masnada, Silvia, Peterlongo, Irene, Oyarzábal, Alfonso, Santos-Gómez, Ana, Altafaj, Xavier, García-Cazorla, Ángeles

“…GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first…”
Get full text

Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency by 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

“…Aim To elucidate the etiological aspects of autism spectrum disorder (ASD) in succinic semialdehyde dehydrogenase deficiency (SSADHD), related to dysregulation…”
Get full text

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia by 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

“…Objective Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and…”
Get full text

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders by 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

“…Objective Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to…”
Get full text