Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil Lipofuscinoses ceróides neuronais: estudo clínico e morfológico de 17 pacient...

by ANA CRISTINA S PUGA, LAURA B JARDIM, LEILA CHIMELLI, CAROLINA F M DE SOUZA, MARTA CLIVATI
Published 2000-09-01

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

by Roberta Reichert, Juliano A. Pérez, Amauri Dalla‐Corte, Filippo Pinto e Vairo, Carolina F. M. deSouza, Roberto Giugliani, Gustavo R. Isolan, Marco Antonio Stefani
Published 2021-07-01

Glycogen storage disease type I: clinical and laboratory profile

by Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz
Published 2014-11-01

Glycogen storage disease type I: clinical and laboratory profile

by Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz
Published 2014-12-01

Glycogen storage disease type I: clinical and laboratory profile

by Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler‐Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz
Published 2014-11-01

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

by Carmen R. Vargas, Daniella de M. Coelho, Alethéa G. Barschak, Carolina F.M. de Souza, Ana C.S. Puga, Ida V.D. Schwartz, Laura Jardim, Roberto Giugliani
Published 2000-06-01

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

by Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Published 2019-04-01

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

by Jésica Tamara Jacoby, Bruna Bento dos Santos, Tatiele Nalin, Karina Colonetti, Lília Farret Refosco, Carolina F. M. de Souza, Poli Mara Spritzer, Soraia Poloni, Roberta Hack-Mendes, Ida Vanessa Doederlein Schwartz
Published 2021-08-01

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

by Amauri Dalla Corte, Carolina F. M. de Souza, Maurício Anés, Fabio K. Maeda, Armelle Lokossou, Leonardo M. Vedolin, Maria Gabriela Longo, Monica M. Ferreira, Solanger G. P. Perrone, Olivier Balédent, Roberto Giugliani
Published 2017-09-01

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

by Amauri Dalla Corte, Carolina F. M. de Souza, Maurício Anés, Fabio K. Maeda, Armelle Lokossou, Leonardo M. Vedolin, Maria Gabriela Longo, Monica M. Ferreira, Solanger G. P. Perrone, Olivier Balédent, Roberto Giugliani
Published 2017-10-01

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Published 2017-01-01

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz
Published 2017-01-01

Diagnosis and Management of Classical Homocystinuria in Brazil

by Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Published 2018-08-01