Zobrazeno 1 - 10
of 1 813
pro vyhledávání: '"Fischinger A"'
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:
Frank Reichenberger, Florian Popp, Martin Hoffmann, Carina Fischinger, Werner von Wulffen, Nikolaus Kneidinger, Martin Welcker
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Seropositive rheumatoid arthritis (RA) is associated with significant cardiovascular and pulmonary morbidity. However, screening for early detection of pulmonary involvement especially interstitial lung disease (ILD) is not establ
Externí odkaz:
https://doaj.org/article/7bcba1f6bd5348c99b59b7134bb5a382
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:
Pereira, Alessandra1 (AUTHOR), Fischinger Moura de Souza, Carolina2 (AUTHOR), Álvarez-Córdoba, Mónica3 (AUTHOR), Reche-López, Diana3 (AUTHOR), Sánchez-Alcázar, José Antonio3 (AUTHOR) jasanalc@upo.es
Publikováno v:
Orphanet Journal of Rare Diseases. 11/28/2024, Vol. 19 Issue 1, p1-16. 16p.
Autor:
Delgado, Camila Aguilar, Lopes, Franciele Fátima, Faverzani, Jéssica Lamberty, Schmitt Ribas, Graziela, Padilha Marchetti, Desirèe, de Souza, Carolina Fischinger Moura, Giugliani, Roberto, Baldo, Guilherme, Vargas, Carmen Regla
Publikováno v:
In Clinical Biochemistry December 2024 133-134
Autor:
Tresbach, Rafael Hencke, Sperb-Ludwig, Fernanda, Ligabue-Braun, Rodrigo, Bitencourt, Fernanda Hendges de, Tonon, Tássia, Souza, Carolina Fischinger Moura de, Poswar, Fabiano de Oliveira, Leite, Maria Efigênia de Queiroz, Amorim, Tatiana, Porta, Gilda, Seda Neto, João, Miura, Irene Kazumi, Steiner, Carlos Eduardo, Martins, Ana Maria, Pessoa, André Luiz Santos, Ribeiro, Erlane Marques, Schwartz, Ida Vanessa Doederlein
Publikováno v:
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Autor:
Guelbert, Norberto, Espitia Segura, Oscar Mauricio, Amoretti, Carolina, Arteaga Arteaga, Angélica, Atanacio, Nora Graciela, Bazan Natacha, Sabrina, Carvalho, Ellaine Doris Fernandes, Carvalho de Andrade, Maria Denise Fernandes, Denzler, Inés María, Durand, Consuelo, Ribeiro, Erlane, Giugni, Juan Carlos, González, Gabriel, González Moron, Dolores, Guelbert, Guillermo, Hernández Rodriguez, Zulma Janneth, Embiruçu Emilia, Katiane, Kauffman, Marcelo Andrés, Mancilla, Nury Isabel, Marcon, Laureano, Marques Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Muñoz, Victor Adrián, Naranjo Flórez, Ricardo Andrés, Pessoa, André Luiz, Ruiz, María Victoria, Solano Villareal, Martha Luz, Spécola, Norma, Tavera, Lina Marcela, Tello, Javiera, Troncoso Schifferli, Mónica, Ugrina, Sonia, Vaccarezza, María Magdalena, Vergara, Diane, Villanueva, María Mercedes
Publikováno v:
In Molecular Genetics and Metabolism Reports March 2024 38
Publikováno v:
Clinical Ophthalmology, Vol Volume 17, Pp 2765-2776 (2023)
Robert Edward T Ang,1 Pedro Tañá-Rivero,2 Francisco Pastor-Pascual,3 Pavel Stodulka,4 Manfred Tetz,5 Isaak Fischinger6 1Cataract and Refractive Surgery Department, Asian Eye Institute, Makati City, Philippines; 2Cataract and Refractive Surgery Depa
Externí odkaz:
https://doaj.org/article/1839bb810c3b4d8b97d80c565d4e5137
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