Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study

by Carneiro,Luciana, Souza,Carolina F.M., Giugliani,Roberto, Fagondes,Simone C.
Published 2022

Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil

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

Glycogen storage disease type I: clinical and laboratory profile

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

Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil

by Vargas,Carmen R., Barschak,Alethéa G., Coelho,Daniella M., Furlanetto,Vivian, Souza,Carolina F.M. de, Karam,Simone M., Jardim,Laura, Wajner,Moacir, Giugliani,Roberto
Published 2000

Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

by Santos,Bruna B. dos, Nalin,Tatiéle, Grokoski,Kamila C., Perry,Ingrid D. S., Refosco,Lilia F., Vairo,Filippo P., Souza,Carolina F. M., Schwartz,Ida V. D.
Published 2017

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

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

O ENSINO DE GENÉTICA NA MEDICINA: COMO OS ALUNOS PERCEBEM A GENÉTICA CLÍNICA

by Souza,Carolina F.M, Schwartz,Ida V. D., Ruschel,Sílvia P., Puga,Ana Cristina, Reis,Alexandre M., Costa,Fabrício S., Dias,Ricardo P., Flores,Renato Z., Schuler,Lavínia
Published 1996

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

by 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
Published 2019

Perthes-Like Disease Masquerading Non-Classical MPS

by Souza,Carolina F.M., Siqueira,Ana Cecília, Antunes,Natália S., Horovitz,Dafne D.G., Politei,Juan, Lourenço,Charles M., Doriqui,Maria Juliana Rodovalho, Souza,Débora Lima, Galera,Marcial Francis, Abrahão,Leonardo Cury, Matos,Marcos Almeida, Mendes,Pedro Henrique Barros, Magalhães,Tatiana S.P.C
Published 2020

Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

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