A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG von Delgado, M. A., Martinez-Domenech, G., Sarrión, P., Urreizti, R., Zecchini, L., Robledo, H. H., Segura, F., de Kremer, R. Dodelson, Balcells, S., Grinberg, D., Asteggiano, C. G.

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An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients von Kohan, R, Cismondi, IA, Dodelson Kremer, R, Muller, VJ, Guelbert, N, Tapia Anzolini, V, Fietz, MJ, Oller Ramírez, AM, Noher Halac, I

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Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatment von Depetris‐Boldini, C., Galetto, R., Videla, M. P., Kremer Dodelson, R.

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Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring von De Kremer, R Dodelson, Grosso, C

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Lysosomal storage diseases and related disorders: the Argentina (Córdoba) experience von de Kremer, R Dodelson, Paschini-Capra, A, Depetris-Boldini, C, Oller-Ramírez, A, Giner-Ayala, A, Guelbert, N, Angaroni, C, Laróvere, L, Latini, A, Civallero, G

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A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine–guanine phosphoribosyl-transferase deficiency, neurological variant von Laróvere, L.E, Romero, N, Fairbanks, L.D, Conde, C, Guelbert, N, Rosa, A.L, Kremer, R.Dodelson de

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A frequent TG deletion near the polyadenylation signal of the human HEXB gene: Occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3′ untranslat... von Kleiman, FE, Ramírez, A. Oller, Akerman, B, Dodelson de Kremer, R, Gravel, RA, Argaraña, CE

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Sandhoff disease in Argentina : high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection von KLEIMAN, F. E, DODELSON DE KREMER, R, OLLER DE RAMIREZ, A, GRAVEL, R. A, ARGARANA, C. E

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Characterization of two HEXB gene mutations in Argentinean patients with Sandhoof disease von BROWN, C. A, MCINNES, B, DODELSON DE KREMER, R, MAHURAN, D. J

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Attenuated variants of Lesch-Nyhan disease von 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.

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molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America von 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

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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America von 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

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Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene von Angaroni, Celia J., Labrune, Philippe, Petit, François, Sastre, Dario, Capra, Ana E., de Kremer, Raquel Dodelson, Argaraña, Carlos E.

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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency von DODELSON DE KREMER, Raquel, LATINI, Alexandra, SUORMALA, Terttu, BAUMGARTNER, E. Regula, LAROVERE, Laura, CIVALLERO, Gabriel, GUELBERT, Norberto, PASCHINI-CAPRA, Ana, DEPETRIS-BOLDINI, Catalina, QUIROGA MAYOR, Carlos

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Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina von Oller Ramírez, Ana María, Ramos, María D., Jiménez, Javier, Ghio, Addy, de Botelli, Myrna Melano, Rezzónico, Carlos A., Marqués, Inés, Pereyro, Silvia, Casals, Teresa, de Kremer, Raquel Dodelson

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Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability von Angaroni, Celia J., de Kremer, Raquel Dodelson, Argaraña, Carlos E., Paschini-Capra, Ana E., Giner-Ayala, Alicia N., Pezza, Roberto J., Pan, Chi-Jiunn, Chou, Janice Y.

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Histoenzymology of oxidases and dehydrogenases in peripheral blood lymphocytes and monocytes for the study of mitochondrial oxidative phosphorylation von Noher de Halac, I, Bacman, S R, de Kremer, R D

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Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation) von De Kremer, Raquel Dodelson, Paschini-Capra, Ana, Bacman, Sandra, Argaraña, Carlos, Civallero, Gabriel, Kelley, Richard I., Guelbert, Norberto, Latini, Alexandra, de Halac, Inés Noher, Giner-Ayala, Alicia, Johnston, Jennifer, Proujansky, Roy, Gonzalez, Iris, Depetris-Boldini, Catalina, Oller-Ramírez, Ana, Angaroni, Celia, Theaux, Ricardo A., Hliba, Ernesto, Juaneda, Ernesto

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