Carolina Fischinger Moura de Souza (Carolina F M De Souza, Carolina F M de Souza, Carolina F M de Souza)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 9

Top Topics

Peritoneal Dialysis

Intellectual Disability

Autism Spectrum Disorder

Bone Mineral Density

Top Venues

Genetics and molecular biology

American journal of medical genetics. Part A

Journal of paediatrics and child health

This page only lists publications with an associated author ORCID identifier.

Publications

Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Marcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto E Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Disease progression in Sanfilippo type B: Case series of Brazilian patients. Genetics and molecular biology 47 (1) (2024)
Juliana Alves Josahkian, Ana Carolina Brusius Facchin, Alice Brinckmann Oliveira Netto, Sandra Leistner-Segal, Diana Rojas Málaga, Maira Graeff Burin, Kristiane Michelin-Tirelli, Franciele Barbosa Trapp, Augusto César Cardoso Dos Santos, Erlane Marques Ribeiro, Chong Ae Kim, Ana Cecília Menezes de Siqueira, Mara Lucia Schmitz Ferreira Santos, Daniel Almeida do Valle, Raquel Tavares Boy da Silva, Dafne Dain Gandelman Horovitz, Paula Frassinetti Vasconcelos de Medeiros, Carolina Fischinger Moura de Souza, Liane de Rosso Giuliani, Diego Santana Chaves Geraldo Miguel, Luiz Carlos Santana da Silva, Marcial Francis Galera, Roberto Giugliani
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 187 (3) (2021)
Jésica Tamara Jacoby, Bruna Bento Dos Santos, Tatiele Nalin, Karina Colonetti, Lília Farret Refosco, Carolina Fischinger Moura de Souza, Poli Mara Spritzer, Soraia Poloni, Roberta Hack-Mendes, Ida Vanessa Doederlein Schwartz
Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases. Nutrients 13 (9) (2021)
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Fernanda S Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso Dos Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araujo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network. American journal of medical genetics. Part A (2021)
Ana Vitoria Barban Margutti, Wilson Araújo da Silva Junior, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lucia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. Orphanet journal of rare diseases 15 (1) (2020)
Charles M Lourenço, Andre Pessoa, Carmen C Mendes, Carolina Rivera-Nieto, Diane Vergara, Mónica Troncoso, Emily Gardner, Francisca Mallorens, Lina Tavera, Luis A Lizcano, Nora Atanacio, Norberto Guelbert, Norma Specola, Nury Mancilla, Carolina Fischinger Moura de Souza, Sara E Mole
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. Journal of paediatrics and child health 57 (4) (2020)
Cláubia V Bender, Heraldo Luis Dias da Silveira, Natália S Dos Santos, Juliano Cavagni, Pantelis Varvaki Rados, Angela B John, Carolina Fischinger Moura de Souza, Roberto Giugliani, Fernanda Visioli
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency. American journal of medical genetics. Part A 182 (12) (2020)