E-LIB Suche - Ergebnisse für: Doederlein-Schwartz, Ida Vanessa

1

Editorial: Inborn errors of carbohydrate metabolism:

Martínez-Duncker, Iván ; Doederlein-Schwartz, Ida Vanessa ; Abreu-González, Melania.
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Cytokine profiling in patients with hepatic glycogen storag..:

Colonetti, Karina ; Pinto e Vairo, Filippo ; Siebert, Marina...
Cytokine. 162 (2023) - p. 156088 , 2023

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

3

Correction: Hepatic glycogen storage diseases are associate..:

Colonetti, Karina ; Bento dos Santos, Bruna ; Nalin, Tatiéle...
PLOS ONE. 14 (2019) 6 - p. e0218254 , 2019

Link: https://doi.org/10.1371/..

4

Brain-derived neurotrophic factor expression increases afte..:

Vairo, Filippo ; Sperb-Ludwig, Fernanda ; Wilke, Matheus...
Journal of Neuroimmunology. 278 (2015) - p. 190-193 , 2015

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

5

Visual Dysfunction of Type I and VI Mucopolysaccharidosis P..:

Duarte Gomes, Bruno ; da Silva Souza, Givago ; Monteiro Viana, Gustavo...
Case Reports in Ophthalmology. 3 (2012) 1 - p. 104-112 , 2012

Link: https://doi.org/10.1159/..

6

Potential use of other starch sources in the treatment of g..:

Monteiro, Vaneisse ; Colonetti, Karina ; Pagno, Carlos Henrique...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

7

An adult with cystathionine beta-synthase deficiency, campt..:

Donis, Karina Carvalho ; Kalil, Marco Antônio Baptista ; Poswar, Fabiano...
Genetics and Molecular Biology. 47 (2024) 1 - p. , 2024

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

8

General overview of urea cycle disorders (UCDs) in Brazil:

Schwartz, Ida Vanessa Doederlein ; dos Santos, Mariana Lopes ; Fink, Isabela Alicia...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108217 , 2024

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

9

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

Teixeira, Lucas ; Randon, Devora ; Poswar, Fabiano.
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108265 , 2024

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

10

Adherence to PKU guidelines among patients with phenylketon..:

Chiesa, Ana ; Spécola, Norma ; Poubel, Monique...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101026 , 2024

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

11

Brazilian cohort of patients diagnosed with glucose transpo..:

Sobrinho, Livia ; Refosco, Lilia ; Poswar, Fabiano..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108261 , 2024

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

12

Rare diseases diagnosed through neonatal screening: Data fr..:

Milke, Júlia Cordeiro ; de Oliveira, Bibiana Mello ; Schmidt, Amanda Maria...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108337 , 2024

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

13

Identification of metabolic pathways and key genes associat..:

Pasqualotto, Amanda ; da Silva, Vinícius ; Pellenz, Felipe Mateus...
Metabolic Brain Disease. 39 (2024) 4 - p. 577-587 , 2024

Link: https://doi.org/10.1007/..

14

GBA1 variants in Brazilian Gaucher disease patients:

Basgalupp, Suelen Porto ; Altmann, Vivian ; Vairo, Filippo Pinto e...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101006 , 2023

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

15

Homocysteine and methylmalonic acid in Phenylketonuria pati..:

Hoss, Giovana Regina Weber ; Sperb-Ludwig, Fernanda ; Tonon, Tássia...
Genetics and Molecular Biology. 46 (2023) 3 suppl 1 - p. , 2023

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