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7 research outputs found
IncidĂȘncia de gamopatias em pacientes com Doença de Gaucher acompanhados em um Centro de ReferĂȘncia
Author
Becker Ana Paula Pizzio
Publication venue
Publication date
01/01/2020
Field of study
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Lume 5.8
Avaliação da densitometria óssea antes e após uso de bifosfonatos em pacientes com Doença de Gaucher
Author
Becker Ana Paula Pizzio
Publication venue
Publication date
01/01/2019
Field of study
Get PDF
Lume 5.8
Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of the mutation c.985A>G (ACADM) in a healthy population of Rio Grande do Sul, Brazil
Author
Becker Ana Paula Pizzio
Bitencourt Fernanda Hendges de
+8Â more
Pagel Guilherme Meneguzzi
Portela Luiz Felipe da Silva
Randon DĂ©vora Natalia
Santos Bruna Bento dos
Santos Mariana Lopes dos
Schwartz Ida Vanessa Doederlein
Sperb Fernanda
Vianna Fernanda Sales Luiz
Publication venue
Publication date
01/01/2020
Field of study
Get PDF
Lume 5.8
PrevalĂȘncia elevada da variante patogĂȘnica c.554-1G>T (FAH), associada Ă tirosinemia do tipo 1 no sul do Brasil
Author
Becker Ana Paula Pizzio
Bitencourt Fernanda Hendges de
+11Â more
Pagel Guilherme Meneguzzi
Portela Luiz Felipe da Silva
Poswar Fabiano de Oliveira
Randon DĂ©vora Natalia
Santos Bruna Bento dos
Santos Mariana Lopes dos
Schwartz Ida Vanessa Doederlein
Silva JoĂŁo Lucas de Souza e
Souza Carolina Fischinger Moura de
Sperb Fernanda
Vianna Fernanda Sales Luiz
Publication venue
Publication date
01/01/2021
Field of study
Get PDF
Lume 5.8
Erros inatos do metabolismo associados Ă morte sĂșbita: investigação da frequĂȘncia da variante patogĂȘnica C.199T>C no gene acadm em indivĂduos saudĂĄveis do Rio Grande do Sul
Author
Becker Ana Paula Pizzio
Bitencourt Fernanda Hendges de
+6Â more
Portela Luiz Felipe da Silva
Randon DĂ©vora Natalia
Sant'Ana Alexia Nedel
Schwartz Ida Vanessa Doederlein
Sperb Fernanda
Vianna Fernanda Sales Luiz
Publication venue
Publication date
01/01/2018
Field of study
No full text
Lume 5.8
Erros inatos do metabolismo associados Ă morte sĂșbita: investigação da frequĂȘncia da variante patogĂȘnica C.199T>C no gene acadm em indivĂduos saudĂĄveis do Rio Grande do Sul
Author
Becker Ana Paula Pizzio
Bitencourt Fernanda Hendges de
+6Â more
Portela Luiz Felipe da Silva
Randon DĂ©vora Natalia
Sant'Ana Alexia Nedel
Schwartz Ida Vanessa Doederlein
Sperb Fernanda
Vianna Fernanda Sales Luiz
Publication venue
Publication date
01/01/2018
Field of study
Get PDF
Lume 5.8
Investigação da prevalĂȘncia da variante patogĂȘnica c.1168G>A (ASSI), associada a citrulinemia tipo I, em uma população saudĂĄvel do Rio Grande do Sul, Brasil
Author
Becker Ana Paula Pizzio
Bitencourt Fernanda Hendges de
+8Â more
Monteiro Vaneisse Cristina Lima
Portela Luiz Felipe da Silva
Randon DĂ©vora Natalia
Santos Mariana Lopes dos
Schwartz Ida Vanessa Doederlein
Silva Camila Matuella Figueira da
Sperb Fernanda
Vianna Fernanda Sales Luiz
Publication venue
Publication date
01/01/2020
Field of study
No full text
Lume 5.8