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1

Analysis of anthropometric measurements and dietary intake in patients undergoing a multi-professional program osteoarthritis treatment (parqve – project arhtritis recovering quality of life by means of education)

Brito, N.L., Rezende, M.U., Campos, G.C., Hissadomi, M.I., Pasqualim, T., Pailo, A.F., Fruchi, R., Camargo, O.P.

Journal:

Osteoarthritis and Cartilage

Year:

2015

Language:

english

File:

PDF, 466 KB

english, 2015

2

Geographic distribution and possible origins of most frequent mutations observed in mucopolysaccharidosis type I patients

Poletto, Edina, Pasqualim, Gabriela, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 72 KB

english, 2018

3

MICROCÁPSULAS DE ALGINATO DE CÁLCIO E ÓLEO VEGETAL PELA TÉCNICA DE GELIFICAÇÃO IÔNICA: UM ESTUDO DA CAPACIDADE DE ENCAPSULAMENTO E APLICAÇÃO DERMATOLÓGICA

Pasqualim, P., Culpi, T. A., Kaminski, G. T. A., Fin, M. T., Sasso, D. G. B., Costa, C. K., Miguel, M. D., Fujiwara, G. M., Rodrigues, B. H., Zanin, S. M. W.

Journal:

Visão Acadêmica

Year:

2010

File:

PDF, 2.99 MB

2010

4

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts

de Carvalho, Talita Giacomet, Schuh, Roselena, Pasqualim, Gabriela, Pellenz, Felipe Matheus, Filippi-Chiela, Eduardo Cremonese, Giugliani, Roberto, Baldo, Guilherme, Matte, Ursula

Journal:

Year:

2018

Language:

english

File:

PDF, 3.77 MB

english, 2018

5

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

Schuh, Roselena Silvestri, Poletto, Édina, Pasqualim, Gabriela, Tavares, Angela Maria Vicente, Meyer, Fabíola Shons, Gonzalez, Esteban Alberto, Giugliani, Roberto, Matte, Ursula, Teixeira, Helder Ferr

Journal:

Journal of Controlled Release

Year:

2018

Language:

english

File:

PDF, 12.46 MB

english, 2018

6

Progressive eye pathology in Mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

Gonzalez, Esteban A., Visioli, Fernanda, Pasqualim, Gabriela, Souza, Carolina F.M., Marinho, Diane R., Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Clinical & Experimental Ophthalmology

Year:

2020

Language:

english

File:

PDF, 2.39 MB

english, 2020

7

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Borges, PÃ¢mella, Pasqualim, Gabriela, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.48 MB

2020

8

Association between birth weight, body mass index and IGF2/ApaI polymorphism

M.V.M. Gomes, M.R. Soares, A. Pasqualim-Neto, C.R. Marcondes, R.B. Lôbo, E.S. Ramos

Journal:

Growth Hormone & IGF Research

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

9

The involvement of PUMP from mitochondria of Araucaria angustifolia embryogenic cells in response to cold stress

Valente, Caroline, Pasqualim, Patrícia, Jacomasso, Thiago, Maurer, Juliana Bello Baron, Souza, Emanuel Maltempi de, Martinez, Glaucia Regina, Rocha, Maria Eliane Merlin, Carnieri, Eva Gunilla Skare, C

Journal:

Year:

2012

Language:

english

File:

PDF, 785 KB

english, 2012

10

Fabry disease: A new approach for the screening of females in high-risk groups

Pasqualim, Gabriela, Simon, Laura, Sperb-Ludwig, Fernanda, Burin, Maira Graef, Michelin-Tirelli, Kristiane, Giugliani, Roberto, Matte, Ursula

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 576 KB

english, 2014

11

Estudo prospectivo e randomizado que avalia a adição de corticoide à viscossuplementação: três meses de seguimento

Campos, Gustavo Constantino de, Rezende, Márcia Uchôa de, Pailo, Alexandre Felício, Frucchi, Renato, Pasqualim, Thiago, Camargo, e Olavo Pires de

Journal:

Revista Brasileira de Ortopedia

Year:

2013

File:

PDF, 280 KB

2013

12

Randomized prospective study evaluating addition of corticoid to viscosupplementation: three months of follow-up

Campos, Gustavo Constantino de, Rezende, Márcia Uchôa de, Pailo, Alexandre Felício, Frucchi, Renato, Pasqualim, Thiago, Camargo, Olavo Pires de

Journal:

Revista Brasileira de Ortopedia (English Edition)

Year:

2013

File:

PDF, 280 KB

2013

13

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients

Pasqualim, G., Ribeiro, M.G., da Fonseca, G.G.G., Szlago, M., Schenone, A., Lemes, A., Rojas, M.V.M., Matte, U., Giugliani, R.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 241 KB

english, 2014

14

MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

Federhen, Andressa, de Cássia Cascaes Batista, Carla, Burin, Maira, Leistner-Segal, Sandra, Matte, Ursula, Rafaelli, Célio, Bender, Fernanda, Brusius, Ana Carolina, Pasqualim, Gabriela, Giugliani, Rob

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

15

Analysis of cDNA Molecules is Not Suitable for the Molecular Diagnosis of Mucopolysaccharidosis Type I

Almeida, Andresa Cardoso Grandini, Pasqualim, Gabriela, Mayer, Fabiana Q., Schwartz, Ida Vanessa Doderlein, Souza, Carolina F., Giugliani, Roberto, Matte, Ursula

Journal:

Diagnostic Molecular Pathology

Year:

2012

Language:

english

File:

PDF, 174 KB

english, 2012

16

Identification of mutations in Colombian patients affected with Fabry disease

Uribe, Alfredo, Mateus, Heidi Eliana, Prieto, Juan Carlos, Palacios, Maria Fernanda, Ospina, Sandra Yaneth, Pasqualim, Gabriela, da Silveira Matte, Ursula, Giugliani, Roberto

Journal:

Year:

2015

Language:

english

File:

PDF, 371 KB

english, 2015

17

Fc Gamma Receptor IIA (CD32A) R131 Polymorphism as a Marker of Genetic Susceptibility to Sepsis

Beppler, Jaqueline, Koehler-Santos, Patrícia, Pasqualim, Gabriela, Matte, Ursula, Alho, Clarice Sampaio, Dias, Fernando Suparregui, Kowalski, Thayne Woycinck, Velasco, Irineu Tadeu, Monteiro, Renato C

Journal:

Year:

2016

Language:

english

File:

PDF, 291 KB

english, 2016

18

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders

Giugliani, Roberto, Brusius-Facchin, Ana-Carolina, Pasqualim, Gabriela, Leistner-Segal, Sandra, Riegel, Mariluce, Matte, Ursula

Journal:

Expert Review of Molecular Diagnostics

Year:

2015

Language:

english

File:

PDF, 734 KB

english, 2015

19

Emerging drugs for the treatment of mucopolysaccharidoses

Giugliani, Roberto, Federhen, Andressa, Vairo, Filippo, Vanzella, Cláudia, Pasqualim, Gabriela, da Silva, Letícia Machado Rosa, Giugliani, Luciana, de Boer, Ana Paula Kurz, de Souza, Carolina Fishinge

Journal:

Expert Opinion on Emerging Drugs

Year:

2016

Language:

english

File:

PDF, 1.55 MB

english, 2016

20

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

Schneider, A., Matte, U., Pasqualim, G., Tavares, A., Mayer, F., Martinelli, B., Ribas, G.S., Vargas, C.R., Giugliani, R., Baldo, G.

Journal:

Translational Research

Year:

2016

Language:

english

File:

PDF, 3.44 MB

english, 2016

21

Porcine cytomegalovirus infection is not associated to the occurrence of post-weaning multisystemic wasting syndrome

Cibulski, Samuel Paulo, Pasqualim, Gabriela, Teixeira, Thais Fumaco, Varela, Ana Paula Muterle, Dezen, Diogenes, Holz, Carine Lidiane, Franco, Ana Cláudia, Roehe, Paulo Michel

Journal:

Veterinary Medicine and Science

Year:

2015

Language:

english

File:

PDF, 86 KB

english, 2015

22

CRISPR/Cas9-directed genome editing of human MPS I fibroblasts

de Carvalho, Talita Giacomet, Schuh, Roselena, Pasqualim, Gabriela, Pellenz, Felipe Matheus, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

23

MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease

Pasqualim, Gabriela, Poletto, Édina, Angrezani, Jacques, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

24

Lysosome

Matte, Ursula, Pasqualim, Gabriela

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2016

Language:

english

File:

PDF, 227 KB

english, 2016

25

Simple and efficient screening of patients with Fabry disease with high resolution melting

Pasqualim, Gabriela, dos Santos, Bruna Almeida, Giugliani, Roberto, Matte, Ursula

Journal:

Clinical Biochemistry

Year:

2018

Language:

english

File:

PDF, 526 KB

english, 2018

26

Worldwide distribution of common IDUA pathogenic variants

Poletto, E., Pasqualim, G., Giugliani, R., Matte, U., Baldo, G.

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

27

Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I

Pasqualim, Gabriela, Baldo, Guilherme, de Carvalho, Talita Giacomet, Tavares, Angela Maria Vicente, Giugliani, Roberto, Matte, Ursula

Journal:

Year:

2015

Language:

english

File:

PDF, 3.87 MB

english, 2015

28

Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice

Bidone, Juliana, Schuh, Roselena Silvestri, Farinon, Mirian, Poletto, Édina, Pasqualim, Gabriela, de Oliveira, Patrícia Gnieslaw, Fraga, Michelle, Xavier, Ricardo Machado, Baldo, Guilherme, Ferreira T

Journal:

International Journal of Pharmaceutics

Year:

2018

Language:

english

File:

PDF, 2.69 MB

english, 2018

29

Human Lymph Node-Derived Fibroblastic and Double-Negative Reticular Cells Alter Their Chemokines and Cytokines Expression Profile Following Inflammatory Stimuli

Severino, Patricia, Palomino, Diana Torres, Alvarenga, Heliene, Almeida, Camila Bononi, Pasqualim, Denise Cunha, Cury, Adriano, Salvalaggio, Paolo Rogério, De Vasconcelos Macedo, Antonio Luiz, Andrade

Journal:

Frontiers in Immunology

Year:

2017

Language:

english

File:

PDF, 6.11 MB

english, 2017

30

Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy

Schuh, Roselena Silvestri, Bidone, Juliana, Poletto, Edina, Pinheiro, Camila Vieira, Pasqualim, Gabriela, de Carvalho, Talita Giacomet, Farinon, Mirian, da Silva Diel, Dirnete, Xavier, Ricardo Machado

Journal:

Pharmaceutical Research

Year:

2018

Language:

english

File:

PDF, 3.80 MB

english, 2018

31

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, Souza, Carolina F.M de, Schwartz, Ida V.D., Matte, Ursula, Giugliani, Roberto

Journal:

Genetics and Molecular Biology

Year:

2019

Language:

english

File:

PDF, 1.23 MB

english, 2019

32

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Poletto, Edina, Pasqualim, Gabriela, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Genetics and Molecular Biology

Year:

2019

Language:

english

File:

PDF, 959 KB

english, 2019

33

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Poletto, Edina, Pasqualim, Gabriela, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme

Journal:

Genetics and Molecular Biology

Year:

2019

File:

PDF, 959 KB

2019

34

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra

Journal:

Genetics and Molecular Biology

Year:

2019

Language:

english

File:

PDF, 1.01 MB

english, 2019

35

Estimated birth prevalence of mucopolysaccharidoses in Brazil

Federhen, Andressa, Pasqualim, Gabriela, Freitas, Talita Freitas, Gonzalez, Esteban Alberto, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.29 MB

2020

36

AVALIAÃÃO DA INFLUÃNCIA DA VARIABILIDADE DE ÃLEOS NO MICROENCAPSULAMENTO DE FÃRMACOS HIDROFÃLICOS DE BAIXO PESO MOLECULAR POR EMULSIFICAÃÃO A/O

Kaminski, G. A. T., SilvÃ©rio, L. C., Pasqualim, P., Fin, M. T., Sasso, D. G. B., Fujiwara, G. M., Rodrigues, B. H., Costa, C. K., Zanin, S. M. W.

Journal:

Visão Acadêmica

Year:

2010

File:

PDF, 222 KB

2010

37

IMPORTÃNCIA DE PARÃMETROS DE CONTROLE NA ELABORAÃÃO DE MICROPARTÃCULAS DE Ca2+- ALGINATO

Culpi, T. A., Pasqualim, P., Fin, M. T., Sasso, D. G. B., Kaminski, G. A. T., Fujiwara, G. M., Nunes, P. M. P., Rodrigues, B. H., Dias, J. F. G., Zanin, S. M. W.

Journal:

Visão Acadêmica

Year:

2010

File:

PDF, 613 KB

2010