Search Results - Asteggiano, Carla Gabriela

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis

    Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis by Papazoglu, Gabriela Magali, Cubilla, Marisa, Pereyra, Marcela, de Kremer, Raquel Dodelson, Pérez, Belén, Sturiale, Luisa, Asteggiano, Carla Gabriela

    Published in Glycoconjugate journal
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

    Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls by 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
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

    Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients by Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena, Lapunzina, Pablo, Aza-Carmona, Miriam, Heath, Karen E, Asteggiano, Carla Gabriela

    Published in Genes
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  4. 4
    A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses: A Case Report

    A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses: A Case Report by 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

    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  5. 5
    A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

    A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses by Delgado, María Andrea, BS, Azar, Nydia, MS, Kremer, Raquel Dodelson de, MD, PhD, Asteggiano, Carla Gabriela, PhD, Sarrión, Patricia, BS, Balcells, Susana, PhD, Grinberg, Daniel, PhD, Zecchini, Lorena, MD, Segura, Florencio, MD, PhD, Robledo, Hector Hugo, MD

    Get full text
    Article
    Save to List
    Saved in:
  6. 6
    COG1‐congenital disorders of glycosylation: Milder presentation and review

    COG1‐congenital disorders of glycosylation: Milder presentation and review by Salazar, Marne, Miyake, Noriko, Silva, Sebastián, Solar, Benjamín, Papazoglu, Gabriela M., Asteggiano, Carla G., Matsumoto, Naomichi

    Published in Clinical genetics
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:

Search Tools: