Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Carolina Fischinger Moura de, Souza"'
Autor:
Alessandra Pereira, Carolina Fischinger Moura de Souza, Mónica Álvarez-Córdoba, Diana Reche-López, José Antonio Sánchez-Alcázar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, mu
Externí odkaz:
https://doaj.org/article/b5f3fc269cea43328feb2f0759a68405
Autor:
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Natacha Sabrina Bazan, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101081- (2024)
Externí odkaz:
https://doaj.org/article/0b0d211a4d684930842cef7d024b4a33
Autor:
Lívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lilia Farret Refosco, Soraia Poloni, Fabiano Oliveira Poswar, Carolina Fischinger Moura de Souza, Fernanda Sperb-Ludwig, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101164- (2024)
Glucose transporter type 1 deficiency syndrome (GLUT1) is a genetic condition, most often of autosomal dominant inheritance, and corresponds to a broad spectrum of signs and symptoms due to hypoglycorrhachia, which include seizures, delay in neuropsy
Externí odkaz:
https://doaj.org/article/bee6e2116e92475482387fd5d0fd56f5
Autor:
Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi, Saima Kayani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Pati
Externí odkaz:
https://doaj.org/article/fe68946950d14bbb98164e5360e9fb52
Autor:
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia 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
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 1 (2024)
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological
Externí odkaz:
https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646
Autor:
Norberto Guelbert, Oscar Mauricio Espitia Segura, Carolina Amoretti, Angélica Arteaga Arteaga, Nora Graciela Atanacio, Sabrina Bazan Natacha, Ellaine Doris Fernandes Carvalho, Maria Denise Fernandes Carvalho de Andrade, Inés María Denzler, Consuelo Durand, Erlane Ribeiro, Juan Carlos Giugni, Gabriel González, Dolores González Moron, Guillermo Guelbert, Zulma Janneth Hernández Rodriguez, Katiane Embiruçu Emilia, Marcelo Andrés Kauffman, Nury Isabel Mancilla, Laureano Marcon, Alessandra Marques Pereira, Carolina Fischinger Moura de Souza, Victor Adrián Muñoz, Ricardo Andrés Naranjo Flórez, André Luiz Pessoa, María Victoria Ruiz, Martha Luz Solano Villareal, Norma Spécola, Lina Marcela Tavera, Javiera Tello, Mónica Troncoso Schifferli, Sonia Ugrina, María Magdalena Vaccarezza, Diane Vergara, María Mercedes Villanueva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101060- (2024)
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional
Externí odkaz:
https://doaj.org/article/d1f6513168dd43cd873e78c97646f8bf
Autor:
Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani
Publikováno v:
International Journal for Equity in Health, Vol 22, Iss 1, Pp 1-10 (2023)
Abstract Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-
Externí odkaz:
https://doaj.org/article/2622548807c547e0b0fe3490bb35925f
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract Data on Mucopolysaccharidosis type II (MPS II) in Latin America are scarce. This retrospective database study, using data from the Informatics Department of the Brazilian Health System (DATASUS), aimed to estimate the prevalence of MPSII in
Externí odkaz:
https://doaj.org/article/2d5b0caff2cd48cfaf899d4350679314
Autor:
Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 23-31 (2021)
Abstract Background Morquio B disease (MBD) is a distinct GLB1‐related dysostosis multiplex presenting a mild phenocopy of GALNS‐related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one
Externí odkaz:
https://doaj.org/article/5f21718127ef4c69b7006f56d0a4bbcc
Autor:
Ana Vitoria Barban Margutti, Wilson Araújo Silva, 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 Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded
Externí odkaz:
https://doaj.org/article/2039cf41956a41fdbfad39b064da9a4f