Search Results - "da Silva Franco, José Francisco"

Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome by da Silva Franco, José Francisco, Neves, Raquel Leão, Menezes, Alef Nascimento, Nogueira, Beatriz Ribeiro, Gomes, Caio Perez, Pesquero, João Bosco

“…The patient had clinical suspicion of THES. Complex genetic analyzes using WES, WGS were performed without success in the diagnosis. Further molecular analyzes…”
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New insights in mucopolysaccharidosis type VI: Neurological perspective by Borlot, Felippe, Arantes, Paula Ricci, Quaio, Caio Robledo, da Silva Franco, José Francisco, Lourenço, Charles Marques, Bertola, Debora Romeo, Kim, Chong Ae

“…Abstract Objective: Mucopolysaccharidosis type VI is a rare autosomal recessive storage disorder, caused by deficiency of arylsulfatase B. Data on neurological…”
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Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study by José Francisco da Silva Franco, Dib, Regina El, Agarwal, Arnav, Soares, Diogo, Milhan, Noala Vicensoto Moreira, Albano, Lilian Maria José, Kim, Chong Ae

“…Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and…”
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Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy by Riguetti, Michelle Tiveron Passos, Varela-Calais, Patricia, Fernandes, Danilo E, da Silva Franco, José Francisco, Ribeiro Nogueira, Beatriz, Pesquero, João B, Mastroianni-Kirsztajn, Gianna

“…Collapsing glomerulopathy (CG) is a rare glomerular disease and its familial form is even rarer. CG and non-collapsing forms of focal segmental…”
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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings by Giugliani, Roberto, Barth, Anneliese Lopes, Dumas, Melissa Rossi Calvão, da Silva Franco, José Francisco, de Rosso Giuliani, Liane, Grangeiro, Carlos Henrique Paiva, Horovitz, Dafne Dain Gandelman, Kim, Chong Ae, de Araújo Leão, Emilia Katiane Embiruçu, de Medeiros, Paula Frassinetti Vasconcelos, Miguel, Diego Santana Chaves Geraldo, Moreira, Maria Espírito Santo Almeida, dos Santos, Helena Maria Guimarães Pimentel, da Silva, Luiz Carlos Santana, da Silva, Luiz Roberto, de Souza, Isabel Neves, Nalin, Tatiele, Garcia, Daniel

“…Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an…”
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Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement by Borlot, Felippe, Arantes, Paula Ricci, Quaio, Caio Robledo, Franco, José Francisco da Silva, Lourenço, Charles Marques, Gomy, Israel, Bertola, Debora Romeo, Kim, Chong Ae

“…Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N‐acetylgalactosamine 6‐sulfatase. Studies usually focus on…”
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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation by Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, Ikegawa, Shiro

“…Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and…”
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The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII by Wang, Raymond Y., da Silva Franco, José Francisco, López-Valdez, Jaime, Martins, Esmeralda, Sutton, Vernon Reid, Whitley, Chester B., Zhang, Lin, Cimms, Tricia, Marsden, Deborah, Jurecka, Agnieszka, Harmatz, Paul

“…Vestronidase alfa (recombinant human beta-glucuronidase) is an enzyme replacement therapy (ERT) for Mucopolysaccharidosis (MPS) VII, a highly heterogeneous,…”
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Corrigendum to “The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII” [Mol Genet Metab 2020 Mar;129(3):219–227] by Wang, Raymond Y., da Silva Franco, José Francisco, López-Valdez, Jaime, Martins, Esmeralda, Sutton, Vernon Reid, Whitley, Chester B., Zhang, Lin, Cimms, Tricia, Marsden, Deborah, Jurecka, Agnieszka, Harmatz, Paul

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Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII by Wang, Raymond Y., da Silva Franco, José Francisco, López-Valdez, Jaime, Martins, Esmeralda, Sutton, Vernon R., Whitley, Chester B., Zhang, Lin, Cimms, Tricia, Marsden, Deborah, Jurecka, Agnieszka, Harmatz, Paul

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Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VII by Wang, Raymond, da Silva Franco, José Francisco, Harmatz, Paul, López-Valdez, Jaime, Martins, Esmeralda, Reid Sutton, V., Whitley, Chester B., Chanda, Amanda, Song, Wenjie, Ali, Qais Abu, Haller, Christine

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