Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
Kohan, R, Cismondi, I A, Oller-Ramirez, A M, Guelbert, N, Anzolini, Tapia V, Alonso, G, Mole, S E, de Kremer, Dodelson R, de Halac, Noher I
Published in Current pharmaceutical biotechnology (01.06.2011)
Published in Current pharmaceutical biotechnology (01.06.2011)
Get more information
Journal Article
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
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.
Published in Scientific reports (18.09.2014)
Published in Scientific reports (18.09.2014)
Get full text
Journal Article
Genetic polymorphism of thiopurine S-methyltransferase in Argentina
LAROVERE, L. E, DE KREMER, R. Dodelson, LAMBOOY, L. H. J, DE ABREU, R. A
Published in Annals of clinical biochemistry (01.07.2003)
Published in Annals of clinical biochemistry (01.07.2003)
Get full text
Journal Article
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Biochemical and Molecular Findings in Six Argentine Patients
Laróvere, L. E., O'Neill, J. P., Randall, M., Fairbanks, L. D., Guelbert, N., Czornyj, L., de Kremer, R. Dodelson
Published in Nucleosides, nucleotides & nucleic acids (01.01.2007)
Published in Nucleosides, nucleotides & nucleic acids (01.01.2007)
Get full text
Journal Article
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine–guanine phosphoribosyl-transferase deficiency, neurological variant
Laróvere, L.E, Romero, N, Fairbanks, L.D, Conde, C, Guelbert, N, Rosa, A.L, Kremer, R.Dodelson de
Published in Molecular genetics and metabolism (01.04.2004)
Published in Molecular genetics and metabolism (01.04.2004)
Get full text
Journal Article
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′ untranslated region
Kleiman, FE, Ramírez, A. Oller, Akerman, B, Dodelson de Kremer, R, Gravel, RA, Argaraña, CE
Published in Human mutation (1998)
Published in Human mutation (1998)
Get full text
Journal Article
Lysosomal storage diseases and related disorders: the Argentina (Córdoba) experience
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
Published in Acta Paediatrica (01.11.2002)
Published in Acta Paediatrica (01.11.2002)
Get full text
Journal Article
Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders
Dodelson de Kremer, R, Paschini de Capra, A, Angaroni, C J, Giner de Ayala, A
Published in Medicina (Buenos Aires) (1997)
Get more information
Published in Medicina (Buenos Aires) (1997)
Journal Article
Molecular diagnosis of Gaucher disease in Argentinian patients
Argaraña, C E, Givogri, I, Dodelson de Kremer, R, Gelbart, T, Depetris de Boldini, C
Published in Medicina (Buenos Aires) (1995)
Get more information
Published in Medicina (Buenos Aires) (1995)
Journal Article
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage
Dodelson de Kremer, R, Kelley, R I, Depetris de Boldini, C, Paschini de Capra, A, Corbella, L, Givogri, I, Giner de Ayala, A, Albarenque, M
Published in Medicina (Buenos Aires) (1992)
Get more information
Published in Medicina (Buenos Aires) (1992)
Journal Article
Estimation of heterozygote frequency of Sandhoff disease in a high-risk Argentinian population. Predictive assignment of the genotype through statistical analysis
Dodelson de Kremer, R, Depetris de Boldini, C, Paschini de Capra, A, Pons de Veritier, P, Goldenhersch, H, Corbella, L, Sembaj, A, Martín, S, Kremer, I, Mass, L
Published in Medicina (Buenos Aires) (1987)
Get more information
Published in Medicina (Buenos Aires) (1987)
Journal Article
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
Kleiman, F E, de Kremer, R D, de Ramirez, A O, Gravel, R A, Argaraña, C E
Published in Human genetics (01.09.1994)
Published in Human genetics (01.09.1994)
Get more information
Journal Article