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R Dodelson

Showing results (11-20 of 22) with videos related to

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Medicina|January 1, 1990
[Salla disease (sialuria, Finnish type). New clinical presentation in the 1st Argentine report]R Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, et al.
Annals of Clinical Biochemistry|July 26, 2003
Genetic polymorphism of thiopurine S-methyltransferase in ArgentinaL E Laróvere, R Dodelson de Kremer, L H J Lambooy, et al.
Medicina|January 1, 1995
[Molecular diagnosis of Gaucher disease in Argentinian patients]C E Argaraña, I Givogri, R Dodelson de Kremer, et al.
Medicina|January 1, 1997
[Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders]R Dodelson de Kremer, A Paschini de Capra, C J Angaroni, et al.
Human Mutation|October 29, 1998
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 regionF E Kleiman, A O Ramírez, R Dodelson de Kremer, et al.
Medicina|January 1, 1992
[Phenotypic expression variation of isovaleric acidemia in Argentinian patients. A long term follow-up]R Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, et al.
Molecular Genetics and Metabolism|April 3, 2004
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variantL E Laróvere, N Romero, L D Fairbanks, et al.
Nucleosides, Nucleotides & Nucleic Acids|April 25, 2007
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patientsL E Laróvere, J P O'Neill, M Randall, et al.
Medicina|January 1, 1992
[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]R Dodelson de Kremer, R I Kelley, C Depetris de Boldini, et al.
Clinical Genetics|October 2, 2009
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patientsR Kohan, I A Cismondi, R Dodelson Kremer, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Medicina|January 1, 1990
[Salla disease (sialuria, Finnish type). New clinical presentation in the 1st Argentine report]R Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, et al.
Annals of Clinical Biochemistry|July 26, 2003
Genetic polymorphism of thiopurine S-methyltransferase in ArgentinaL E Laróvere, R Dodelson de Kremer, L H J Lambooy, et al.
Medicina|January 1, 1995
[Molecular diagnosis of Gaucher disease in Argentinian patients]C E Argaraña, I Givogri, R Dodelson de Kremer, et al.
Medicina|January 1, 1997
[Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders]R Dodelson de Kremer, A Paschini de Capra, C J Angaroni, et al.
Human Mutation|October 29, 1998
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 regionF E Kleiman, A O Ramírez, R Dodelson de Kremer, et al.
Medicina|January 1, 1992
[Phenotypic expression variation of isovaleric acidemia in Argentinian patients. A long term follow-up]R Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, et al.
Molecular Genetics and Metabolism|April 3, 2004
A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variantL E Laróvere, N Romero, L D Fairbanks, et al.
Nucleosides, Nucleotides & Nucleic Acids|April 25, 2007
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patientsL E Laróvere, J P O'Neill, M Randall, et al.
Medicina|January 1, 1992
[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]R Dodelson de Kremer, R I Kelley, C Depetris de Boldini, et al.
Clinical Genetics|October 2, 2009
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patientsR Kohan, I A Cismondi, R Dodelson Kremer, et al.
Pageof 3