Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jaime Moritz Brum"'
Autor:
Guilherme Dotto Brand, Helainy Cristina de Matos, Gabriel Costa Nunes da Cruz, Nilza do Carmo Fontes, Marcelo Buzzi, Jaime Moritz Brum
Publikováno v:
Clinics, Vol 68, Iss 11, Pp 1469-1473 (2013)
OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diag
Externí odkaz:
https://doaj.org/article/a7bfc20ad6614b1882531df4e638e4e1
Autor:
Jaime Moritz Brum, Isabela Maria Pinto de Oliveira Rizzo, Walquiria Domingues de Mello, Carlos Eduardo Speck-Martins
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 66, Iss 3a, Pp 545-548 (2008)
Externí odkaz:
https://doaj.org/article/94d2f95477714d62b0f1a2f77bba8546
Autor:
Christiana Brenner, Carlos Eduardo Speck-Martins, Jaime Moritz Brum, Leandro Tavares Lucato, Claudia da Costa Leite
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 72, Iss 8, Pp 646-647 (2014)
Externí odkaz:
https://doaj.org/article/1e7ab6a751654300bccf89f1deb45f2b
Autor:
Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum, Roel Smeets, Marjan Kersten, Karin Huijben, Wee Teik Keng, Carlos Eduardo Speck‐Martins, Daniel Rocha de Carvalho, Isabela Maria Pinto Oliveira de Rizzo, Walquiria Domingues de Mello, Rebecca Heiner‐Fokkema, Kathleen Gorman, Stephanie Grunewald, Helen Michelakakis, Marina Moraitou, Diego Martinelli, Monique van Scherpenzeel, Mirian Janssen, Lonneke de Boer, Lambertus P. van den Heuvel, Christian Thiel, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 769-781
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Journal of Inherited Metabolic Disease, 45, 4, pp. 769-781
Journal of Inherited Metabolic Disease, 45(4), 769-781. SPRINGER
Contains fulltext : 282651.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aad8887e9519c62164677392015f41c6
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
Autor:
Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak
Publikováno v:
Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61
Item does not contain fulltext Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # 612940) is a segmental progeroid disorder caused by mutations in PYCR1 encoding pyrroline-5-carboxylate reductase 1, which is part of the conserved proline de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979e
https://doi.org/10.1016/j.ymgme.2013.08.009
https://doi.org/10.1016/j.ymgme.2013.08.009
Autor:
Ricardo Flores Pires, Maria Verónica Muñoz Rojas, José Semionato Filho, Márcia Reis Guimarães, Ana Maria Martins, Paulo Cesar Aranda, Ana Paula Fiuza Funicello Dualibi, Eugênia Ribeiro Valadares, Edna Tiemi Takata, Zelita Caldeira Ferreira Guedes, Gustavo Antonio Moreira, Jaime Moritz Brum, Gisele de Luca, Marcelo Kerstenetzky, Gilda Porta, Rodrigo G.C. Faria, Denise Y. J. Norato, Ursula da Silveira Matte, Janice Carneiro Coelho, Ronald Moura Vale Mota, Helena Pimentel, Emerson de Santana Santos
Publikováno v:
The Journal of pediatrics. 155
Mucopolysaccharidosis type I (MPS I) is the prototype of the MPS disorders, a subgroup of lysosomal storage diseases. The incidence of MPS I in Brazil is unknown, but a retrospective population study in Australia conducted between 1980 and 1996 yield
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a700580cd1760e93b6c4aa5597205a
https://pubmed.ncbi.nlm.nih.gov/19765409
https://pubmed.ncbi.nlm.nih.gov/19765409