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104 results on '"García-Cazorla, Ángeles"'

2. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Author

Schulze, Andreas, García-Cazorla, Angeles, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., 2<ce:sup loc='post">nd</ce:sup>, Le Mons, Cynthia, Wong, Derek, Dobbelaere, Dries, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Lawrence Merritt, J., 2<ce:sup loc='post">nd</ce:sup>, Seminara, Jennifer, Konczal, Laura, Burrage, Lindsay C., Breilyn, Margo, Lindner, Martin, Baumgartner, Matthias R., Mew, Nicholas Ah., Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar, Posset, Roland, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Epp, Friederike, Ramdhouni, Nesrine, Druck, Ann-Catrin, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias

Published
2024
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3. 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

Author

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, and Ribes, Antonia

Published
2023
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4. Disorders of Cellular Trafficking

Author

García-Cazorla, Ángeles, Dionisi-Vici, Carlo, Saudubray, Jean-Marie, Saudubray, Jean-Marie, editor, Baumgartner, Matthias R., editor, García-Cazorla, Ángeles, editor, and Walter, John, editor

Published
2022
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8. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

Author

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

Published
2024
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9. Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, 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, and Ribes, Antonia

Published
2021
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11. Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

Author

Kožich, Viktor, primary, Schwahn, Bernd C, additional, Sokolová, Jitka, additional, Křížková, Michaela, additional, Ditroi, Tamas, additional, Krijt, Jakub, additional, Khalil, Youssef, additional, Křížek, Tomáš, additional, Vaculíková-Fantlová, Tereza, additional, Stibůrková, Blanka, additional, Mills, Philippa, additional, Clayton, Peter, additional, Barvíková, Kristýna, additional, Blessing, Holger, additional, Sykut-Cegielska, Jolanta, additional, Dionisi-Vici, Carlo, additional, Gasperini, Serena, additional, García-Cazorla, Ángeles, additional, Haack, Tobias B, additional, Honzík, Tomáš, additional, Ješina, Pavel, additional, Kuster, Alice, additional, Laugwitz, Lucia, additional, Martinelli, Diego, additional, Porta, Francesco, additional, Santer, René, additional, Schwarz, Guenter, additional, and Nagy, Peter, additional

Published
2022
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12. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

Author

Peters, Tessa M. A., primary, Merx, Jona, additional, Kooijman, Pieter C., additional, Noga, Marek, additional, de Boer, Siebolt, additional, van Gemert, Loes A., additional, Salden, Guido, additional, Engelke, Udo F. H., additional, Lefeber, Dirk J., additional, van Outersterp, Rianne E., additional, Berden, Giel, additional, Boltje, Thomas J., additional, Artuch, Rafael, additional, Pías‐Peleteiro, Leticia, additional, García‐Cazorla, Ángeles, additional, Barić, Ivo, additional, Thöny, Beat, additional, Oomens, Jos, additional, Martens, Jonathan, additional, Wevers, Ron A., additional, Verbeek, Marcel M., additional, Coene, Karlien L. M., additional, and Willemsen, Michèl A. A. P., additional

Published
2022
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14. Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

Author

Hübschmann, Oya Kuseyri, primary, Juliá‐Palacios, Natalia Alexandra, additional, Olivella, Mireia, additional, Guder, Philipp, additional, Zafeiriou, Dimitrios I., additional, Horvath, Gabriella, additional, Kulhánek, Jan, additional, Pearson, Toni S., additional, Kuster, Alice, additional, Cortès‐Saladelafont, Elisenda, additional, Ibáñez, Salvador, additional, García‐Jiménez, Maria Concepción, additional, Honzík, Tomáš, additional, Santer, René, additional, Jeltsch, Kathrin, additional, Garbade, Sven F., additional, Hoffmann, Georg F., additional, Opladen, Thomas, additional, and García‐Cazorla, Ángeles, additional

Published
2022
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15. Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Author

Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, de Boer, Siebolt, van Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., van Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, and Wevers, Ron A.

Abstract

We used next‐generation metabolic screening to identify new biomarkers for improved diagnosis and pathophysiological understanding of glucose transporter type 1 deficiency syndrome (GLUT1DS), comparing metabolic cerebrospinal fluid (CSF) profiles from 12 patients to those of 116 controls. This confirmed decreased CSF glucose and lactate levels in patients with GLUT1DS and increased glutamine at group level. We identified three novel biomarkers significantly decreased in patients, namely gluconic + galactonic acid, xylose‐α1‐3‐glucose, and xylose‐α1‐3‐xylose‐α1‐3‐glucose, of which the latter two have not previously been identified in body fluids. CSF concentrations of gluconic + galactonic acid may be reduced as these metabolites could serve as alternative substrates for the pentose phosphate pathway. Xylose‐α1‐3‐glucose and xylose‐α1‐3‐xylose‐α1‐3‐glucose may originate from glycosylated proteins; their decreased levels are hypothetically the consequence of insufficient glucose, one of two substrates for O‐glucosylation. Since many proteins are O‐glucosylated, this deficiency may affect cellular processes and thus contribute to GLUT1DS pathophysiology. The novel CSF biomarkers have the potential to improve the biochemical diagnosis of GLUT1DS. Our findings imply that brain glucose deficiency in GLUT1DS may cause disruptions at the cellular level that go beyond energy metabolism, underlining the importance of developing treatment strategies that directly target cerebral glucose uptake. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Assessing the landscape of STXBP1-related disorders in 534 individuals

Author

Xian, Julie, primary, Parthasarathy, Shridhar, additional, Ruggiero, Sarah M, additional, Balagura, Ganna, additional, Fitch, Eryn, additional, Helbig, Katherine, additional, Gan, Jing, additional, Ganesan, Shiva, additional, Kaufman, Michael C, additional, Ellis, Colin A, additional, Lewis-Smith, David, additional, Galer, Peter, additional, Cunningham, Kristin, additional, O’Brien, Margaret, additional, Cosico, Mahgenn, additional, Baker, Kate, additional, Darling, Alejandra, additional, Veiga de Goes, Fernanda, additional, El Achkar, Christelle M, additional, Doering, Jan Henje, additional, Furia, Francesca, additional, García-Cazorla, Ángeles, additional, Gardella, Elena, additional, Geertjens, Lisa, additional, Klein, Courtney, additional, Kolesnik-Taylor, Anna, additional, Lammertse, Hanna, additional, Lee, Jeehun, additional, Mackie, Alexandra, additional, Misra-Isrie, Mala, additional, Olson, Heather, additional, Sexton, Emma, additional, Sheidley, Beth, additional, Smith, Lacey, additional, Sotero, Luiza, additional, Stamberger, Hannah, additional, Syrbe, Steffen, additional, Thalwitzer, Kim Marie, additional, van Berkel, Annemiek, additional, van Haelst, Mieke, additional, Yuskaitis, Christopher, additional, Weckhuysen, Sarah, additional, Prosser, Ben, additional, Son Rigby, Charlene, additional, Demarest, Scott, additional, Pierce, Samuel, additional, Zhang, Yuehua, additional, Møller, Rikke S, additional, Bruining, Hilgo, additional, Poduri, Annapurna, additional, Zara, Federico, additional, Verhage, Matthijs, additional, Striano, Pasquale, additional, and Helbig, Ingo, additional

Published
2021
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18. Additional file 5 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, 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, and Ribes, Antonia

Subjects
integumentary system
Abstract

Additional file 5. MRM of the extracted ion chromatograms of methylmalonic acid homocysteine and methylcitric acid together with the corresponding deuterated compounds.

Published
2021
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19. Additional file 2 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, 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, and Ribes, Antonia

Abstract

Additional file 2. Validation results of methylmalonic acid, methylcitric acid and homocysteine on dried blood spots by UPLC-MS/MS.

Published
2021
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20. Additional file 4 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, 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, and Ribes, Antonia

Abstract

Additional file 4. Mass spectrometer parameters for the detection of methylmalonic acid, homocysteine, and methylcitric acid.

Published
2021
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21. Additional file 1 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, 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, and Ribes, Antonia

Abstract

Additional file 1. Additional material and methods.

Published
2021
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22. Additional file 3 of Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Aleix Navarro-Sastre, 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, and Ribes, Antonia

Abstract

Additional file 3. Diseases included in the neonatal screening program of Catalonia.

Published
2021
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23. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Author

University of Heidelberg, Keller, Mareike, Brennenstuhl, Heiko, Hübschmann, Oya Kuseyri, Manti, Filippo, Palacios, Natalia Alexandra Julia, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet-Na, Zafeiriou, Dimitrios I., López-Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano-Lomelin, Jesús, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín Alejandro, García-Cazorla, Ángeles, Hoffmann, Georg F., Tay Kiat Hong, Stacey, 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, University of Heidelberg, Keller, Mareike, Brennenstuhl, Heiko, Hübschmann, Oya Kuseyri, Manti, Filippo, Palacios, Natalia Alexandra Julia, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet-Na, Zafeiriou, Dimitrios I., López-Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano-Lomelin, Jesús, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès-Saladelafont, Elisenda, Fernández-Ramos, Joaquín Alejandro, García-Cazorla, Ángeles, Hoffmann, Georg F., Tay Kiat Hong, Stacey, 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, and Fung, Cheuk-Wing

Abstract

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.

Published
2021

24. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, National Center for Tumor Diseases (Germany), Hübschmann, Oya Kuseyri, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., iNTD Registry Study Group, García-Cazorla, Ángeles, Opladen, Thomas, Ministry of Health of the Czech Republic, Instituto de Salud Carlos III, European Commission, Dietmar Hopp Foundation, Rosetrees Trust, National Center for Tumor Diseases (Germany), Hübschmann, Oya Kuseyri, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., iNTD Registry Study Group, García-Cazorla, Ángeles, and Opladen, Thomas

Abstract

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.

Published
2021

25. An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia

Author

Kuseyri Hübschmann, Oya, primary, Palacios, Natalia Alexandra Julia, additional, Olivella, Mireia, additional, Guder, Philipp, additional, Zafeiriou, Dimitrios I., additional, Horvath, Gabriella, additional, Kulhánek, Jan, additional, Pearson, Toni S., additional, Kuster, Alice, additional, Cortès-Saladelafont, Elisenda, additional, Ibáñez, Salvador, additional, García-Jiménez, M. Concepción, additional, Honzík, Tomáš, additional, Santer, Rene, additional, Jeltsch, Kathrin, additional, Garbade, Sven F., additional, Hoffmann, Georg Friedrich, additional, Opladen, Thomas, additional, and García-Cazorla, Ángeles, additional

Published
2021
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28. Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Author

Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, 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, and Ribes, Antonia

Subjects
GENETIC disorders, NEWBORN screening, VITAMIN B12, METHYLMALONIC acid, VITAMIN deficiency, HOMOCYSTEINE, VITAMINS, RESEARCH, RESEARCH methodology, AMINO acid metabolism disorders, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, RESEARCH funding, ACYCLIC acids
Abstract

Background: Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most of the neonatal cases with acquired vitamin B12 deficiency have been detected by clinical symptoms and only few of them trough NBS programs. We aim to assess the usefulness of the second-tier test: methylmalonic acid (MMA), methylcitric acid (MCA) and homocysteine (Hcys) in our newborn screening program and explore the implications on the detection of cobalamin (vitamin B12) related disorders, both genetic and acquired conditions.Methods: A screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated.Results: During the period 2015-2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B12 deficiency (incidence 1:1989), 19 with genetic disorders (incidence 1:13,613) and 13 were false positive. No false negatives were notified. Concerning the second-tier test, the percentage of cases with MMA above the cut-off levels, both for genetic and acquired conditions was very similar (58% and 60%, respectively). Interestingly, the percentage of cases with increased levels of Hcys was higher in acquired conditions than in genetic disorders (87% and 47%, respectively). In contrast, MCA was high only in 5% of the acquired conditions versus in 53% of the genetic disorders, and it was always very high in all patients with propionic acidemia.Conclusions: When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B12 deficiency should be done. The results of our strategy support the inclusion of this acquired condition in the NBS programs, as it is easily detectable and allows the adoption of corrective measures to avoid the consequences of its deficiency. [ABSTRACT FROM AUTHOR]

Published
2021
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29. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Author

Instituto de Salud Carlos III, European Commission, Fundación Española para la Ciencia y la Tecnología, Asociación Catalana del Síndrome de Rett, Fondo Biorett, Mi Princesa Rett, Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, O'Callaghan, María del Mar, García-Cazorla, Ángeles, Pineda, Mercé, Armstrong, Judith, Instituto de Salud Carlos III, European Commission, Fundación Española para la Ciencia y la Tecnología, Asociación Catalana del Síndrome de Rett, Fondo Biorett, Mi Princesa Rett, Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, O'Callaghan, María del Mar, García-Cazorla, Ángeles, Pineda, Mercé, and Armstrong, Judith

Abstract

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the study.

Published
2017

30. Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Author

López, Luis C., primary, Akman, Hasan O., additional, García-Cazorla, Ángeles, additional, Dorado, Beatriz, additional, Martí, Ramón, additional, Nishino, Ichizo, additional, Tadesse, Saba, additional, Pizzorno, Giuseppe, additional, Shungu, Dikoma, additional, Bonilla, Eduardo, additional, Tanji, Kurenai, additional, and Hirano, Michio, additional

Published
2008
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31. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Author

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, and Opladen, Thomas

Subjects
Aromatic l-amino acid decarboxylase deficiency, AADC deficiency, Neurotransmitter, Dopamine, Serotonin, Guideline, Infantile dystonia-parkinsonism, SIGN, GRADE
Abstract

Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease. Electronic supplementary material The online version of this article (doi:10.1186/s13023-016-0522-z) contains supplementary material, which is available to authorized users.

Published
2017
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