المؤلفون: Dévora N. Randon, Fernanda Sperb-Ludwig, Fernanda S. L. Vianna, Ana P. P. Becker, Carmen R. Vargas, Angela Sitta, Alexia N. Sant’Ana, Ida V. D. Schwartz, Fernanda H. de Bitencourt

المصدر: Genetics and Molecular Biology, Vol 43, Iss 3 (2020)

مصطلحات موضوعية: Citrullinemia type I, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mut0 methylmalonic acidemia, pathogenic variants, prevalence, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500104&tlng=en; http://www.scielo.br/pdf/gmb/v43n3/1415-4757-GMB-43-3-e20190298.pdf; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/f3a1c67dcb9d49aea1b3ecad9cafbd4d

المؤلفون: Dévora N. Randon (10469514), Fernanda Sperb-Ludwig (4022951), Fernanda S. L. Vianna (10469517), Ana P. P. Becker (10469520), Carmen R. Vargas (7032407), Angela Sitta (7032392), Alexia N. Sant’Ana (10469523), Ida V. D. Schwartz (4022984), Fernanda H. de Bitencourt (10469526)

مصطلحات موضوعية: Biochemistry and Cell Biology not elsewhere classified, Genetics not elsewhere classified, Citrullinemia type I, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, mut0 methylmalonic acidemia, pathogenic variants, prevalence

Relation: https://figshare.com/articles/dataset/Prevalence_of_the_most_common_pathogenic_variants_in_three_genes_for_inborn_errors_of_metabolism_associated_with_sudden_unexpected_death_in_infancy_a_population-based_study_in_south_Brazil/14320431

الاتاحة: https://doi.org/10.6084/m9.figshare.14320431.v1