Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Luiz C. Santana"'
Autor:
Pedro E. Bonfim‐Freitas, Roseani S. Andrade, Ândrea K. Ribeiro‐dos‐Santos, Luiz C. Santana‐da Silva
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, b
Externí odkaz:
https://doaj.org/article/932e5a90d8144ddcbb6d0b28e8915bae
Autor:
Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Sou
Externí odkaz:
https://doaj.org/article/8f5b2a71a5294f6ab3e01d69f4619060
Autor:
Gustavo M. Viana, Nathália O. de Lima, Rosely Cavaleiro, Erik Alves, Isabel C.N. Souza, Raimunda Feio, Sandra Leistner-Segal, Ida Schwartz, Roberto Giugliani, Luiz C. Santana da Silva
Publikováno v:
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 410-415 (2011)
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary ex
Externí odkaz:
https://doaj.org/article/fda889ee6c81479cb843f2b9cacce177
Autor:
Bonfim‐Freitas, Pedro E., Andrade, Roseani S., Ribeiro‐dos‐Santos, Ândrea K., Silva, Luiz C. Santana‐da
Publikováno v:
Molecular Genetics & Genomic Medicine; Oct2023, Vol. 11 Issue 10, p1-10, 10p
Autor:
Bruna A. G. de Melo, Mayara V. Mundim, Robertha M. R. Lemes, Elisa M. Cruz, Tais N. Ribeiro, Carolina F. Santiago, Jéssica H. L. da Fonsêca, Julia C. Benincasa, Roberta S. Stilhano, Nathalia Mantovani, Luiz C. Santana, Ricardo Durães‐Carvalho, Ricardo S. Diaz, Luiz M. R. Janini, Juliana T. Maricato, Marimelia A. Porcionatto
Publikováno v:
Advanced biology. 6(8)
The effects of neuroinvasion by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) become clinically relevant due to the numerous neurological symptoms observed in Corona Virus Disease 2019 (COVID-19) patients during infection and post-COVI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a7b5547f6a63060720161047eef780e
https://pubmed.ncbi.nlm.nih.gov/35521969
https://pubmed.ncbi.nlm.nih.gov/35521969
Autor:
Boy, Raquel, Schwartz, Ida Vanessa Doederlein, Krug, Bárbara C., Silva, Luiz C. Santana da, Steiner, Carlos Eduardo, Acosta, Angelina Xavier, Ribeiro, Erlane M., Galera, Marcial F., Leivas, Paulo G. C., Braz, Marlene
Publikováno v:
Repositório Institucional da UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
Universidade Federal da Bahia (UFBA)
instacron:UFBA
Texto completo: acesso restrito. p. 233-239 Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-04-02T16:57:19Z No. of bitstreams: 1 Angelina X Acosta.pdf: 262279 bytes, checksum: 09fb34c293d14375f2eb9e9209994229 (MD5) Approved for entry int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::6935d175cd21a96d44aa169389055f98
http://repositorio.ufba.br/ri/handle/ri/17673
http://repositorio.ufba.br/ri/handle/ri/17673
Autor:
Flávio Shansis, Eugenio H. Grevet, Caroline Hastenpflug, Letícia Forster, Luiz C. Santana, Flávio Kapczinski, Marcos Roberto Tietzmann, Ivan Izquierdo
Publikováno v:
ResearcherID
Acute phenylalanine and tyrosine depletion (APTD) studies have been used to assess the role of the cathecholaminergic system in various aspects of human behaviour. In this study we conducted a randomized, double-blind, controlled and cross-over compa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78318048aae452c000716ad001c4c5dc
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000174786800007&KeyUID=WOS:000174786800007
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000174786800007&KeyUID=WOS:000174786800007
Autor:
Luciana Giugliani, Angela Sitta, Carmen R Vargas, Luiz C Santana-da-Silva, Tatiéle Nalin, Maria Luiza Saraiva-Pereira, Roberto Giugliani, Ida Vanessa D Schwartz
Publikováno v:
Jornal de Pediatria, Vol 87, Iss 3, Pp 245-251 (2011)
OBJETIVO: Identificar indivíduos responsivos à tetrahibrobiopterina (BH4) em uma amostra de pacientes brasileiros com hiperfenilalaninemia por deficiência de fenilalanina-hidroxilase (HPA-PAH). MÉTODOS: Estudo intervencional, amostragem por conve
Externí odkaz:
https://doaj.org/article/438c88bc962b430e9d54d60d1499bb84
Autor:
Viana GM; Laboratório de Erros Inatos do Metabolismo, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil., de Lima NO, Cavaleiro R, Alves E, Souza IC, Feio R, Leistner-Segal S, Schwartz I, Giugliani R, da Silva LC
Publikováno v:
Genetics and molecular biology [Genet Mol Biol] 2011 Jul; Vol. 34 (3), pp. 410-5. Date of Electronic Publication: 2011 Jul 01.