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Medicina
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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 region
F 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.
Human Genetics
|
April 14, 2011
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, et al.
Human Genetics
|
October 21, 2010
Gene symbol: IDS. Disease: Mucopolysaccharidosis II
Ana María Oller Ramirez, María José Coll, Amparo Chabás, et al.
Archivos Argentinos De Pediatria
|
September 13, 2017
[Juvenile form of Sandhoff disease: first case reported in Argentina]
Julia Mugnaini, Marcela Pereyra, Raquel Dodelson de Kremer, 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 variant
L 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 patients
L E Laróvere, J P O'Neill, M Randall, et al.
Glycoconjugate Journal
|
March 1, 2021
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
Gabriela Magali Papazoglu, Marisa Cubilla, Marcela Pereyra, et al.
Human Genetics
|
April 14, 2011
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, et al.
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Search research articles
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Showing results (51-60 of 95) with videos related to
Sort By:
Page
of 10
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 region
F 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.
Human Genetics
|
April 14, 2011
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, et al.
Human Genetics
|
October 21, 2010
Gene symbol: IDS. Disease: Mucopolysaccharidosis II
Ana María Oller Ramirez, María José Coll, Amparo Chabás, et al.
Archivos Argentinos De Pediatria
|
September 13, 2017
[Juvenile form of Sandhoff disease: first case reported in Argentina]
Julia Mugnaini, Marcela Pereyra, Raquel Dodelson de Kremer, 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 variant
L 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 patients
L E Laróvere, J P O'Neill, M Randall, et al.
Glycoconjugate Journal
|
March 1, 2021
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
Gabriela Magali Papazoglu, Marisa Cubilla, Marcela Pereyra, et al.
Human Genetics
|
April 14, 2011
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, et al.
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of 10