F
Fernanda Bender
Researcher at Universidade Federal do Rio Grande do Sul
Publications - 13
Citations - 225
Fernanda Bender is an academic researcher from Universidade Federal do Rio Grande do Sul. The author has contributed to research in topics: Newborn screening & Mucopolysaccharidosis. The author has an hindex of 7, co-authored 13 publications receiving 173 citations.
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Journal ArticleDOI
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy.
Bruna Donida,Desirèe Padilha Marchetti,Giovana Brondani Biancini,Marion Deon,Paula R. Manini,Helen Tais da Rosa,Dinara Jaqueline Moura,Jenifer Saffi,Fernanda Bender,Maira Graeff Burin,Adriana Simon Coitinho,Roberto Giugliani,Carmen Regla Vargas +12 more
TL;DR: The data presented suggest that pro-inflammatory and pro-oxidant states occur in MPS IVA patients even under ERT, and supplementation of antioxidants in combination with ERT can be a tentative therapeutic approach with the purpose of improving the patient's quality of life.
Journal ArticleDOI
Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil
Fabiana Moura Costa-Motta,Angelina Xavier Acosta,Kiyoko Abe-Sandes,Fernanda Bender,Ida Vanessa Doederlein Schwartz,Roberto Giugliani,Sandra Leistner-Segal +6 more
TL;DR: The results of this work strongly suggest a founder effect accounting for the high frequency of p.H178L mutation in this area and reinforces the need of a comprehensive community genetics program for this area.
Journal ArticleDOI
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
Fabiana Moura Costa-Motta,Fernanda Bender,Angelina Xavier Acosta,Kiyoko Abe-Sandes,Taisa Manuela Bonfim Machado,Thais Bomfim,Tatiana Boa Sorte,Danniel da Silva,Alan H. Bittles,Roberto Giugliani,Sandra Leistner-Segal +10 more
TL;DR: The data indicate a compelling case for community-based neonatal screening in conjunction with further initiatives among MPS VI family members to promote genetic education and genetic counselling.
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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Heydy Bravo,Eurico Camargo Neto,Jaqueline Schulte,Jamile Pereira,Claudio Sampaio Filho,Fernanda Machado Bittencourt,Fernanda Medeiros Sebastião,Fernanda Bender,Ana Paula Pereira Scholz de Magalhães,Regis Rolim Guidobono,Franciele Barbosa Trapp,Kristiane Michelin-Tirelli,Carolina Fischinger Moura de Souza,Diana Rojas Málaga,Gabriela Pasqualim,Ana Carolina Brusius-Facchin,Roberto Giugliani +16 more
TL;DR: The methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil show the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.
Journal ArticleDOI
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
Francyne Kubaski,Francyne Kubaski,Ana Carolina Brusius-Facchin,Robert W. Mason,Robert W. Mason,Pravin Patel,Maira Graeff Burin,Kristiane Michelin-Tirelli,Rejane Gus Kessler,Fernanda Bender,Sandra Leistner-Segal,Carolina Araujo Moreno,Denise P. Cavalcanti,Roberto Giugliani,Shunji Tomatsu,Shunji Tomatsu +15 more
TL;DR: The aim of this study was to quantify glycosaminoglycans in amniotic fluid from an MPS VII fetus compared with age‐matched fetuses obtained from normal pregnancies.