Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet

af Wilke, Matheus V., de Souza, Carolina Fischinger Moura, Giugliani, Roberto, Schwartz, Ida V.
Udgivet i Mol Genet Metab (2021)

Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases

af Martinez, Chenia Caldeira, Tonon, Tássia, Nalin, Tatiéle, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Udgivet i JIMD Rep (2018)

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients

af Pinheiro, Franciele Cabral, Sperb-Ludwig, Fernanda, Fagundes Verch, Juliana Maria, dos Santos, Bruna Bento, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Doederlein
Udgivet i Mol Genet Metab Rep (2020)

Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology

af da Rocha Siqueira, Thabata Caroline, de Souza, Carolina Fischinger Moura, Lompa, Paulo, Picarelli, Mercedes, Scheibel, Ilóite, Bender, Fernanda, Guidobono, Régis, Burin, Maira Graeff, Giugliani, Roberto
Udgivet i JIMD Rep (2015)

Lysosomal diseases: Overview on current diagnosis and treatment

af Poswar, Fabiano de Oliveira, Vairo, Filippo, Burin, Maira, Michelin-Tirelli, Kristiane, Brusius-Facchin, Ana Carolina, Kubaski, Francyne, de Souza, Carolina Fischinger Moura, Baldo, Guilherme, Giugliani, Roberto
Udgivet i Genet Mol Biol (2019)

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

af Pinheiro, Franciele Cabral, Ligabue-Braun, Rodrigo, de Siqueira, Ana Cecília Menezes, Matuella, Camila, de Souza, Carolina Fischinger Moura, Monteiro, Fabíola Paoli, Kok, Fernando, Schwartz, Ida Vanessa Doederlein, Sperb-Ludwig, Fernanda
Udgivet i Genet Mol Biol (2021)

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

af Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, de Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto
Udgivet i JIMD Rep (2019)

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

af Vieira, Taiane Alves, Trapp, Franciele Barbosa, de Souza, Carolina Fischinger Moura, Faccini, Lavínia Schuler, Jardim, Laura Bannach, Schwartz, Ida Vanessa Doederlein, Riegel, Mariluce, Vargas, Carmen Regla, Burin, Maira Graeff, Leistner-Segal, Sandra, Ashton-Prolla, Patrícia, Giugliani, Roberto
Udgivet i Genet Mol Biol (2019)

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series

af Horovitz, Dafne Dain Gandelman, Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C., Lopes Barth, Anneliese, Cardoso, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria
Udgivet i Orphanet J Rare Dis (2016)

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

af Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, Garcia, Daniel Fantozzi, de Molfetta, Greice Andreotti, Marques, Adriana Aparecida, Amorim, Tatiana, Prazeres, Vânia Mesquita Gadelha, Boy da Silva, Raquel Tavares, Miura, Irene Kazue, Seda Neto, João, Santos, Emerson de Santana, Santos, Mara Lúcia Schmitz Ferreira, Lourenço, Charles Marques, Tonon, Tássia, Sperb-Ludwig, Fernanda, de Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa Döederlein, Camelo, José Simon
Udgivet i Orphanet J Rare Dis (2020)