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Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.
Published in:
2016
By:
- Giugliani, Roberto;
- Vairo, Filippo P.;
- Riegel, Mariluce;
- de Souza, Carolina F. M.;
- Schwartz, Ida V. D.;
- Pena, Sérgio D. J.
Publication type:
journal article
Bone Marrow-Derived Stem Cell Populations Are Differentially Regulated by Thyroid or/and Ovarian Hormone Loss.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2139, doi. 10.3390/ijms18102139
By:
- Mogharbel, Bassam F.;
- Abdelwahid, Eltyeb;
- Irioda, Ana C.;
- Francisco, Julio C.;
- Simeoni, Rossana B.;
- de Souza, Daiany;
- de Souza, Carolina M. C. O.;
- Beltrame, Míriam P.;
- Ferreira, Reginaldo J.;
- Guarita-Souza, Luiz C.;
- de Carvalho, Katherine A. T.
Publication type:
Article
Segmentation of the Apodi-Mossoró river and pedogenetic changes in soils in alluvial environments.
Published in:
Revista Caatinga, 2023, v. 36, n. 4, p. 843, doi. 10.1590/1983-21252023v36n412rc
By:
- Lima, Rebeca N. da S.;
- Rego, Lunara G. da S.;
- Souza, Carolina M. M.;
- de Oliveira, Renato D. D.;
- do Rêgo Júnior, Alrivan G.
Publication type:
Article
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2891, doi. 10.1002/ajmg.a.61871
By:
- Bender, Cláubia V.;
- Silveira, Heraldo L. D.;
- Santos, Natália S.;
- Cavagni, Juliano;
- Rados, Pantelis V.;
- John, Angela B.;
- De Souza, Carolina F. M.;
- Giugliani, Roberto;
- Visioli, Fernanda
Publication type:
Article
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0300-8
By:
- Garcia, Daniel F.;
- Camelo Jr., José S.;
- Molfetta, Greice A.;
- Turcato, Marlene;
- Souza, Carolina F. M.;
- Porta, Gilda;
- Steiner, Carlos E.;
- Silva Jr., Wilson A.
Publication type:
Article
Bioelectrical Impedance Analysis–Derived Measurements in Chronic Hepatitis C: Clinical Relevance of Fat‐Free Mass and Phase Angle Evaluation.
Published in:
Nutrition in Clinical Practice, 2018, v. 33, n. 2, p. 238, doi. 10.1177/0884533617728487
By:
- Bering, Tatiana;
- Diniz, Kiara G. D.;
- Coelho, Marta Paula P.;
- de Souza, Ana Carolina M.;
- de Melo, Luisa Freitas;
- Vieira, Diego Alves;
- Soares, Maria Marta S.;
- Kakehasi, Adriana M.;
- Correia, Maria Isabel T. D.;
- Teixeira, Rosângela;
- Queiroz, Dulciene Maria Magalhães;
- Rocha, Gifone A.;
- Silva, Luciana D.
Publication type:
Article
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Published in:
Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 519, doi. 10.1111/jpc.15250
By:
- Lourenço, Charles M;
- Pessoa, Andre;
- Mendes, Carmen C;
- Rivera‐Nieto, Carolina;
- Vergara, Diane;
- Troncoso, Mónica;
- Gardner, Emily;
- Mallorens, Francisca;
- Tavera, Lina;
- Lizcano, Luis A;
- Atanacio, Nora;
- Guelbert, Norberto;
- Specola, Norma;
- Mancilla, Nury;
- Souza, Carolina F M;
- Mole, Sara E
Publication type:
Article
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 32, doi. 10.1002/jmd2.12212
By:
- Reichert, Roberta;
- Pérez, Juliano A.;
- Dalla‐Corte, Amauri;
- Pinto e Vairo, Filippo;
- Souza, Carolina F. M.;
- Giugliani, Roberto;
- Isolan, Gustavo R.;
- Stefani, Marco Antonio
Publication type:
Article
Glycogen storage disease type I: clinical and laboratory profile.
Published in:
Jornal de Pediatria, 2014, v. 90, n. 6, p. 572, doi. 10.1016/j.jped.2014.02.005
By:
- Santos, Berenice L.;
- de Souza, Carolina F. M.;
- Schuler-Faccini, Lavinia;
- Refosco, Lilia;
- Epifanio, Matias;
- Nalin, Tatiele;
- Vieira, Sandra M. G.;
- Schwartz, Ida V. D.
Publication type:
Article
Caffeine and cannabinoid receptors modulate impulsive behavior in an animal model of attentional deficit and hyperactivity disorder.
Published in:
European Journal of Neuroscience, 2019, v. 49, n. 12, p. 1673, doi. 10.1111/ejn.14348
By:
- Leffa, Douglas T.;
- Ferreira, Samira G.;
- Machado, Nuno J.;
- Souza, Carolina M.;
- Rosa, Fernanda da;
- Carvalho, Cristiane;
- Kincheski, Grasielle C.;
- Takahashi, Reinaldo N.;
- Porciúncula, Lisiane O.;
- Souza, Diogo O.;
- Cunha, Rodrigo A.;
- Pandolfo, Pablo
Publication type:
Article
Effect of venlafaxine on bone loss associated with ligature-induced periodontitis in Wistar rats.
Published in:
Journal of Negative Results in Biomedicine, 2010, v. 9, p. 3, doi. 10.1186/1477-5751-9-3
By:
- Carvalho, Rosimary S.;
- de Souza, Carolina M.;
- Neves, Julliana C. S.;
- Holanda-Pinto, Sergio A.;
- Pinto, Lívia M. S.;
- Brito, Gerly A. C.;
- de Andrade, Geanne M.
Publication type:
Article
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.
Published in:
Clinical & Experimental Ophthalmology, 2020, v. 48, n. 3, p. 334, doi. 10.1111/ceo.13713
By:
- Gonzalez, Esteban A.;
- Visioli, Fernanda;
- Pasqualim, Gabriela;
- Souza, Carolina F. M.;
- Marinho, Diane R.;
- Giugliani, Roberto;
- Matte, Ursula;
- Baldo, Guilherme
Publication type:
Article
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 19, p. 3837, doi. 10.1093/hmg/ddx277
By:
- Hinderer, Christian;
- Katz, Nathan;
- Louboutin, Jean-Pierre;
- Bell, Peter;
- Tolar, Jakub;
- Orchard, Paul J.;
- Lund, Troy C.;
- Nayal, Mohamad;
- Liwei Weng;
- Mesaros, Clementina;
- de Souza, Carolina F. M.;
- Dalla Corte, Amauri;
- Giugliani, Roberto;
- Wilson, James M.
Publication type:
Article
Beneficial Roles of Cellulose Patch-Mediated Cell Therapy in Myocardial Infarction: A Preclinical Study.
Published in:
Cells (2073-4409), 2021, v. 10, n. 2, p. 424, doi. 10.3390/cells10020424
By:
- Simeoni, Rossana B.;
- Mogharbel, Bassam F.;
- Francisco, Julio C.;
- Miyague, Nelson I.;
- Irioda, Ana C.;
- Souza, Carolina M. C. O.;
- Souza, Daiany;
- Stricker, Priscila E. Ferreira;
- da Rosa, Nádia Nascimento;
- Souza, Clayton F.;
- Franco, Celia R. Cavichiolo;
- Sierakowski, Maria-Rita;
- Abdelwaid, Eltyeb;
- Guarita-Souza, Luiz C.;
- Carvalho, Katherine A.T.;
- Ljubimov, Alexander V.
Publication type:
Article
Two different presentations of de novo variants of CSNK2B: two case reports.
Published in:
2022
By:
- Wilke, Matheus V. M. B;
- Oliveira, Bibiana M.;
- Pereira, Alessandra;
- Doriqui, Maria Juliana R.;
- Kok, Fernando;
- Souza, Carolina F. M.
Publication type:
journal article
ATP P2Y1 receptors control cognitive deficits and neurotoxicity but not glial modifications induced by brain ischemia in mice.
Published in:
European Journal of Neuroscience, 2014, v. 39, n. 4, p. 614, doi. 10.1111/ejn.12435
By:
- Carmo, Marta R. S.;
- Simões, Ana Patrícia;
- Fonteles, Analu A.;
- Souza, Carolina M.;
- Cunha, Rodrigo A.;
- Andrade, Geanne M.
Publication type:
Article
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.
Published in:
Fluids & Barriers of the CNS, 2017, v. 14, p. 1, doi. 10.1186/s12987-017-0073-2
By:
- Corte, Amauri Dalla;
- de Souza, Carolina F. M.;
- Anés, Maurício;
- Maeda, Fabio K.;
- Lokossou, Armelle;
- Vedolin, Leonardo M.;
- Gabriela Longo, Maria;
- Ferreira, Monica M.;
- Perrone, Solanger G. P.;
- Balédent, Olivier;
- Giugliani, Roberto
Publication type:
Article
Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases.
Published in:
Nutrients, 2021, v. 13, n. 9, p. 2987, doi. 10.3390/nu13092987
By:
- Jacoby, Jésica Tamara;
- Bento dos Santos, Bruna;
- Nalin, Tatiele;
- Colonetti, Karina;
- Farret Refosco, Lília;
- F. M. de Souza, Carolina;
- Spritzer, Poli Mara;
- Poloni, Soraia;
- Hack-Mendes, Roberta;
- Schwartz, Ida Vanessa Doederlein
Publication type:
Article
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Published in:
2017
By:
- Borsatto, Taciane;
- Sperb-Ludwig, Fernanda;
- Lima, Samyra E.;
- Carvalho, Maria R. S.;
- Fonseca, Pablo A. S.;
- Camelo, José S.;
- Ribeiro, Erlane M.;
- de Medeiros, Paula F. V.;
- Lourenço, Charles M.;
- de Souza, Carolina F. M.;
- Boy, Raquel;
- Félix, Têmis M.;
- Bittar, Camila M.;
- Pinto, Louise L. C.;
- Neto, Eurico C.;
- Blom, Henk J.;
- Schwartz, Ida V. D.
Publication type:
Correction Notice
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Published in:
PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177503
By:
- Borsatto, Taciane;
- Sperb-Ludwig, Fernanda;
- Lima, Samyra E.;
- S. Carvalho, Maria R.;
- S. Fonseca, Pablo A.;
- JrS. Camelo, José;
- M. Ribeiro, Erlane;
- F. V. de Medeiros, Paula;
- M. Lourenço, Charles;
- F. M. de Souza, Carolina;
- Boy, Raquel;
- Félix, Têmis M.;
- M. Bittar, Camila;
- L. C. Pinto, Louise;
- C. Neto, Eurico;
- J. Blom, Henk;
- D. Schwartz, Ida V.
Publication type:
Article
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0096-3
By:
- Borsatto, Taciane;
- Sperb-Ludwig, Fernanda;
- Pinto, Louise L. C.;
- De Luca, Gisele R.;
- Carvalho, Francisca L.;
- De Souza, Carolina F. M.;
- De Medeiros, Paula F. V.;
- Lourenço, Charles M.;
- Filho, Reinaldo L. O.;
- Neto, Eurico C.;
- Bernardi, Pricila;
- Leistner-Segal, Sandra;
- Schwartz, Ida V. D.
Publication type:
Article

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