Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Franciele F. Lopes"'
Autor:
Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de
Externí odkaz:
https://doaj.org/article/1013ea20819c42278d1b94181b7a75d1
Autor:
Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Pereira, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Larissa Faqueti, Gabrielle D. Iop, Edina Poletto, Roberto Giugliani
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 39 (2022)
Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid sphingomyelinase deficiency patients.
Externí odkaz:
https://doaj.org/article/cce8ae4353fe4c76a53f67cf47819f02
Autor:
Aparecida Dos Santos France F; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil., Maeda DK; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil., Rodrigues AB; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil., Ono M; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil., Lopes Nogueira Marchetti F; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil., Marchetti MM; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil., Faustino Martins AC; Department of Pharmaceutical Sciences, North Dakota State University, Fargo, ND, USA., Gomes RDS; Department of Pharmaceutical Sciences, North Dakota State University, Fargo, ND, USA., Rainho CA; Department of Chemical and Biological Sciences, Institute of Biosciences of Botucatu, São Paulo State University (UNESP), Botucatu, SP, Brazil.
Publikováno v:
Epigenetics [Epigenetics] 2024 Dec; Vol. 19 (1), pp. 2400423. Date of Electronic Publication: 2024 Sep 10.
Autor:
Aguilar Delgado C; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, R.Ramiro Barcelos, 2600, CEP 90035-03, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil. Electronic address: camila_adelgado@hotmail.com., Hammerschmidt T; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Av. Ipiranga, 27522, CEP 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil., Faverzini JL; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Av. Ipiranga, 27522, CEP 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil., Lopes F; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Av. Ipiranga, 27522, CEP 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil., Giugliani R; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil., Baldo G; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil., Vargas CR; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Instituto de Ciências Básicas da Saúde, UFRGS, R.Ramiro Barcelos, 2600, CEP 90035-03, Porto Alegre, RS, Brazil; Programa de Pós-Graduação em Ciências Farmacêuticas, Faculdade de Farmácia, UFRGS, Av. Ipiranga, 27522, CEP 90610-000, Porto Alegre, RS, Brazil; Serviço de Genética Médica, HCPA, R.Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil. Electronic address: crvargas@hcpa.edu.br.
Publikováno v:
Archives of biochemistry and biophysics [Arch Biochem Biophys] 2023 Mar 15; Vol. 737, pp. 109541. Date of Electronic Publication: 2023 Feb 06.