Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
Silvera-Ruiz, Silene M, Arranz, José A, Häberle, Johannes, Angaroni, Celia J, Bezard, Miriam, Guelbert, Norberto, Becerra, Adriana, Peralta, Fernanda, de Kremer, Raquel Dodelson, Laróvere, Laura E
Published in Orphanet journal of rare diseases (19.08.2019)
Published in Orphanet journal of rare diseases (19.08.2019)
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Journal Article
Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
Laróvere, Laura E., Silvera Ruiz, Silene M., Arranz, José A., Dodelson de Kremer, Raquel
Published in Journal of inborn errors of metabolism and screening (2018)
Published in Journal of inborn errors of metabolism and screening (2018)
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Journal Article
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants
Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Published in PloS one (27.07.2012)
Published in PloS one (27.07.2012)
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Journal Article
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients
Amorosi, Cyntia Anabel, Myskóva, Helena, Monti, Mariela Roxana, Argaraña, Carlos Enrique, Morita, Masashi, Kemp, Stephan, Dodelson de Kremer, Raquel, Dvoráková, Lenka, Oller de Ramírez, Ana María
Published in PloS one (31.12.2012)
Published in PloS one (31.12.2012)
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Journal Article
Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
Laróvere, Laura E., Fairbanks, Lynette D., Jinnah, H. A., Guelbert, Norberto B., Escuredo, Emilia, Becerra, Adriana, Kremer, Raquel Dodelson de
Published in Journal of inborn errors of metabolism and screening (2021)
Published in Journal of inborn errors of metabolism and screening (2021)
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Journal Article
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
Papazoglu, Gabriela Magali, Cubilla, Marisa, Pereyra, Marcela, de Kremer, Raquel Dodelson, Pérez, Belén, Sturiale, Luisa, Asteggiano, Carla Gabriela
Published in Glycoconjugate journal (01.04.2021)
Published in Glycoconjugate journal (01.04.2021)
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Journal Article
High-Risk Screening and Diagnosis of Inborn Errors of Metabolism: A Practical Guide for Laboratories
Civallero, Gabriel, de Kremer, Raquel, Giugliani, Roberto
Published in Journal of Inborn Errors of Metabolism and Screening (06.08.2018)
Published in Journal of Inborn Errors of Metabolism and Screening (06.08.2018)
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Book Review
Journal Article
molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America
Pérez, Belén, Angaroni, Celia, Sánchez-Alcudia, Rocio, Merinero, Begoña, Pérez-Cerdá, Celia, Specola, N, Rodríguez-Pombo, P, Wajner, Moacir, de Kremer, Raquel Dodelson, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Conference Proceeding
Attenuated variants of Lesch-Nyhan disease
Jinnah, H. A., Ceballos-Picot, Irene, Torres, Rosa J., Visser, Jasper E., Schretlen, David J., Verdu, Alfonso, Laróvere, Laura E., Chen, Chung-Jen, Cossu, Antonello, Wu, Chien-Hui, Sampat, Radhika, Chang, Shun-Jen, de Kremer, Raquel Dodelson, Nyhan, William, Harris, James C., Reich, Stephen G., Puig, Juan G.
Published in Brain (London, England : 1878) (01.03.2010)
Published in Brain (London, England : 1878) (01.03.2010)
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Journal Article
Delineation of the motor disorder of Lesch–Nyhan disease
Jinnah, H. A., Visser, Jasper E., Harris, James C., Verdu, Alfonso, Larovere, Laura, Ceballos-Picot, Irene, Gonzalez-Alegre, Pedro, Neychev, Vladimir, Torres, Rosa J., Dulac, Olivier, Desguerre, Isabelle, Schretlen, David J., Robey, Kenneth L., Barabas, Gabor, Bloem, Bastiaan R., Nyhan, William, De Kremer, Raquel, Eddey, Gary E., Puig, Juan G., Reich, Stephen G.
Published in Brain (London, England : 1878) (01.05.2006)
Published in Brain (London, England : 1878) (01.05.2006)
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Journal Article
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
Kohan, Romina, Carabelos, María Noelia, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Cismondi, Inés Adriana, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., Dodelson de Kremer, Raquel, Oller-Ramírez, Ana María, Noher de Halac, Inés
Published in Gene (01.03.2013)
Published in Gene (01.03.2013)
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Journal Article
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America
Urreizti, Roser, Asteggiano, Carla, Bermudez, Marta, Córdoba, Alfonso, Szlago, Mariana, Grosso, Carola, de Kremer, Raquel Dodelson, Vilarinho, Laura, D'Almeida, Vania, Martínez-Pardo, Mercedes, Peña-Quintana, Luís, Dalmau, Jaime, Bernal, Jaime, Briceño, Ignacio, Couce, María Luz, Rodés, Marga, Vilaseca, Maria Antonia, Balcells, Susana, Grinberg, Daniel
Published in Journal of human genetics (01.01.2006)
Published in Journal of human genetics (01.01.2006)
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Journal Article
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls
Asteggiano, Carla Gabriela, Papazoglu, Magali, Bistué Millón, María Beatriz, Peralta, María Fernanda, Azar, Nydia Beatriz, Spécola, Norma Spécola, Guelbert, Norberto, Suldrup, Niels Suldrup, Pereyra, Marcela, Dodelson de Kremer, Raquel
Published in Pediatric research (01.12.2018)
Published in Pediatric research (01.12.2018)
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Journal Article
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
Kranendijk, Martijn, Struys, Eduard A, Gibson, K. Michael, Wickenhagen, Wjera V, Abdenur, Jose E, Buechner, Jochen, Christensen, Ernst, de Kremer, Raquel Dodelson, Errami, Abdellatif, Gissen, Paul, Gradowska, Wanda, Hobson, Emma, Islam, Lily, Korman, Stanley H, Kurczynski, Thaddeus, Maranda, Bruno, Meli, Concetta, Rizzo, Cristiano, Sansaricq, Claude, Trefz, Friedrich K, Webster, Rachel, Jakobs, Cornelis, Salomons, Gajja S
Published in Human mutation (01.03.2010)
Published in Human mutation (01.03.2010)
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Journal Article
A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report
Delgado, María Andrea, Sarrión, Patricia, Azar, Nydia, Zecchini, Lorena, Robledo, Hector Hugo, Segura, Florencio, Balcells, Susana, Grinberg, Daniel, Dodelson de Kremer, Raquel, Asteggiano, Carla Gabriela
Published in Journal of bone and joint surgery. American volume (06.06.2012)
Published in Journal of bone and joint surgery. American volume (06.06.2012)
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Journal Article
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients
Cozar, Mónica, Urreizti, Roser, Vilarinho, Laura, Grosso, Carola, Dodelson de Kremer, Raquel, Asteggiano, Carla G., Dalmau, Jaime, García, Ana María, Vilaseca, María Antonia, Grinberg, Daniel, Balcells, Susana
Published in Human mutation (01.07.2011)
Published in Human mutation (01.07.2011)
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Journal Article
Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experience
Silvera Ruiz, Silene, Grosso, Carola L, Tablada, Margot, Cabrera, Marcelo, Dodelson de Kremer, Raquel, Juaneda, Ernesto, Laróvere, Laura E
Published in Revista de la Facultad de Ciencias Médicas de Córdoba (01.12.2020)
Published in Revista de la Facultad de Ciencias Médicas de Córdoba (01.12.2020)
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Journal Article
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook
Angaroni, Celia J, Giner-Ayala, Alicia N, Hill, Lorena P, Guelbert, Norberto B, Paschini-Capra, Ana E, de Kremer, Raquel Dodelson
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Conference Proceeding