E-LIB Suche - Ergebnisse für: Randon, Dévora N.

1

Metab-Latam: Sharing scientific knowledge about lysosomal d..:

Schwartz, Ida Vanessa D. ; Martínez Bazán, Eliana M. ; Randon, Dévora N....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108035 , 2024

Link: https://doi.org/10.1016/..

2

Mortality profile in a cohort of patients with Gaucher dise..:

Teixeira, Lucas Ferreira ; Poswar, Fabiano ; Randon, Dévora N..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107825 , 2024

Link: https://doi.org/10.1016/..

3

Pathogenic variants in GNPTAB and GNPTG encoding distinct s..:

Di Lorenzo, Giorgia ; Westermann, Lena M. ; Yorgan, Timur A....
Genetics in Medicine. 23 (2021) 12 - p. 2369-2377 , 2021

Link: https://doi.org/10.1038/..

4

COVID-19 pandemic impact on Brazilian patients with lysosom..:

Schwartz, Ida V.D. ; Randon, Dévora N. ; Ferraro, Lethicia C....
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S97-S98 , 2021

Link: https://doi.org/10.1016/..

5

A decade of molecular diagnosis of Mucolipidosis II and III..:

Ludwig, Nataniel F ; Sperb-Ludwig, Fernanda ; Randon, Dévora N...
Journal of Inborn Errors of Metabolism and Screening. 9 (2021) - p. , 2021

Link: https://doi.org/10.1590/..

6

Prevalence of the most common pathogenic variants in three ..:

Randon, Dévora N. ; Sperb-Ludwig, Fernanda ; Vianna, Fernanda S. L....
Genetics and Molecular Biology. 43 (2020) 3 - p. , 2020

Link: https://doi.org/10.1590/..

7

COVID-19 pandemic impact on Brazilian patients with lysosom..:

Schwartz, Ida V.D ; Randon, Dévora N ; Ferraro, Lethicia C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849532/. , 2021

Link: http://www.ncbi.nlm.nih...

8

A decade of molecular diagnosis of Mucolipidosis II and III..:

Ludwig, Nataniel F ; Sperb-Ludwig, Fernanda ; Randon, Dévora N...
10.1590/2326-4594-jiems-2020-0029. , 2021

Link: http://www.scielo.br/sci..

9

Prevalence of the most common pathogenic variants in three ..:

Randon, Dévora N ; Sperb-Ludwig, Fernanda ; Vianna, Fernanda S. L...
10.1590/1678-4685-gmb-2019-0298. , 2020

Link: http://www.scielo.br/sci..

10

A decade of molecular diagnosis of Mucolipidosis II and III..:

Nataniel F Ludwig ; Fernanda Sperb-Ludwig ; Dévora N Randon...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100402&tlng=en. , 2021

Link: https://doi.org/10.1590/..

11

Prevalence of the most common pathogenic variants in three ..:

Dévora N. Randon ; Fernanda Sperb-Ludwig ; Fernanda S. L. Vianna...
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000500104&tlng=en. , 2020

Link: https://doi.org/10.1590/..

12

Prevalence of the most common pathogenic variants in three ..:

Dévora N. Randon (10469514) ; Fernanda Sperb-Ludwig (4022951) ; Fernanda S. L. Vianna (10469517)...
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. , 2020

Link: https://doi.org/10.6084/..

13

Follow-up of pre-motor symptoms of Parkinson's disease in a..:

Wilke, Matheus Vernet Machado Bressan ; Poswar, Fabiano ; Borelli, Wyllians Vendramini...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

14

Medium-chain acyl-CoA dehydrogenase deficiency: prevalence ..:

dos Santos, Mariana Lopes ; Randon, Dévora Natalia ; de Bitencourt, Fernanda Hendges...
Reproductive and Developmental Medicine. 6 (2022) 2 - p. 92-97 , 2022

Link: https://doi.org/10.1097/..

15

SARS‐CoV‐2 pandemic in the Brazilian community of rare dise..:

Schwartz, Ida Vanessa Doederlein ; Randon, Dévora Natalia ; Monsores, Natan...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 3 - p. 301-311 , 2021

Link: https://doi.org/10.1002/..