E-LIB Suche - Ergebnisse für: Acosta, Angelina

1

Screening for Mutations in Hereditary Cancer Susceptibility..:

Oliveira, Polyanna ; Correa, Paula ; Acosta, Angelina...
Global Medical Genetics. 10 (2023) 4 - p. 376-381 , 2023

Link: https://doi.org/10.1055/..

2

A Community-Based Study of Mucopolysaccharidosis Type VI in..:

Costa-Motta, Fabiana Moura ; Bender, Fernanda ; Acosta, Angelina...
Human Heredity. 77 (2014) 1-4 - p. 189-196 , 2014

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

3

Enzyme replacement therapy with double-dose Iaronidase ever..:

Souza, Carolina ; Horovitz, Dafne ; Acosta, Angelina...
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S101-S102 , 2014

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

4

A Community-Based Study of Mucopolysaccharidosis Type VI in..:

Costa-Motta, Fabiana Moura ; Bender, Fernanda ; Acosta, Angelina...
Human Heredity. 77 (2014) 1/4 - p. 189-196 , 2014

Link: https://www.jstor.org/st..

5

Pitfalls in the prenatal diagnosis of mucolipidosis II alph..:

Alegra, Taciane ; Koppe, Tiago ; Acosta, Angelina...
Meta Gene. 2 (2014) - p. 403-406 , 2014

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

6

Enzyme replacement therapy with galsulfase in 34 children y..:

Horovitz, Dafne D.G. ; Magalhães, Tatiana S.P.C. ; Acosta, Angelina...
Molecular Genetics and Metabolism. 109 (2013) 1 - p. 62-69 , 2013

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

7

MPS Brazil Network: An efficient tool to identify MPS patie..:

Giugliani, Roberto ; Acosta, Angelina ; Toralles, Maria Betânia...
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S43-S44 , 2013

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

8

Screening for MPS VI in a high-incidence area of Northeast ..:

Leistner-Segal, Sandra ; Bender, Fernanda ; Bochernitsan, Aline...
Molecular Genetics and Metabolism. 108 (2013) 2 - p. S60 , 2013

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

9

Newborn Screening for MPS VI in a High-incidence Area of No..:

Giugliani, Roberto ; Bender, Fernanda ; Amorim, Tatiana...
Molecular Genetics and Metabolism. 105 (2012) 2 - p. S31-S32 , 2012

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

10

Mucopolysaccharidoses in Brazil: What happens from birth to..:

Vieira, Taiane ; Schwartz, Ida ; Muñoz, Verónica...
American Journal of Medical Genetics Part A. 146A (2008) 13 - p. 1741-1747 , 2008

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

11

Prevalence of the CCR5Δ32 mutation in Brazilian populations..:

Grimaldi, Rogério ; Shindo, Nice ; Acosta, Angelina...
Human Genetics. 111 (2002) 1 - p. 102-104 , 2002

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

12

ELMO2 biallelic pathogenic variants in a patient with gingi..:

Perrone, Eduardo ; Coelho, Antonio Victor Campos ; Virmond, Luiza do Amaral...
American Journal of Medical Genetics Part A. , 2024

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

13

Respiratory function of children and adolescents with osteo..:

Carvalho, Patricia de Abreu Farias ; Regis, Taiane Sousa ; Faiçal, Adriana Virgínia Barros..
Revista Paulista de Pediatria. 41 (2023) - p. , 2023

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

14

Temporal trends in prevalence and infant mortality of birth..:

Fernandes, Qeren Hapuk R. Ferreira ; Paixão, Enny S. ; Costa, Maria da Conceição N....
Ciência & Saúde Coletiva. 28 (2023) 4 - p. 969-979 , 2023

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

15

Clinical Profile Among Brazilian Mucopolysaccharidosis type..:

Horovitz, Dafne D G ; Ribeiro, Márcia G ; Acosta, Angelina X...
Journal of Inborn Errors of Metabolism and Screening. 11 (2023) - p. , 2023

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