Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Miriam B. Bezard"'
Autor:
José Antonio Arranz, Johannes Häberle, Raquel Dodelson de Kremer, Norberto Guelbert, Fernanda Peralta, Adriana Becerra, Miriam B. Bezard, Laura E. Laróvere, Celia J. Angaroni, Silene M. Silvera-Ruiz
Publikováno v:
Scientia
Orphanet Journal of Rare Diseases
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Orphanet Journal of Rare Diseases
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a single refer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d2c3c54e61ea7f0e384a166e32453d4
https://doi.org/10.1186/s13023-019-1177-3
https://doi.org/10.1186/s13023-019-1177-3
Autor:
Raquel Dodelson de Kremer, Sandra L. Antonozzi, Mariko Shimohama, Celia J. Angaroni, Laura E. Laróvere, Miriam B. Bezard
Publikováno v:
Clinical biochemistry. 42(10-11)
Objective Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area. Design and methods Molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4396b31f23f6324fea1248030cfdcd
https://pubmed.ncbi.nlm.nih.gov/19358837
https://pubmed.ncbi.nlm.nih.gov/19358837