Zobrazeno 1 - 10
of 666
pro vyhledávání: '"Fischinger, P."'
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
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
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
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Akademický článek
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