Search Results - "Acosta, Angelina X."

Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infection by de Almeida, Breno Lima, Giovanetti, Marta, Oliveira, João Vitor, Carvalho, Tereza Cristina Xavier, Figueiredo, Eduardo Manoel, Pellegrini, Rosana, Calcagno, Juan Ignacio, Carneiro, Marcia Weber, de Oliveira, Juliana M.G.C., Faiçal, Adriana Virgínia Barros, Agra, Iluska Andrade, Salles, Cristina, Leão, Emília Katiane Embiruçu de Araújo, Lucena, Rita, Acosta, Angelina X., Alcantara, Luiz Carlos Junior, de Siqueira, Isadora Cristina

“…•This series details 14 asymptomatic normocephalic newborns with confirmed congenital Zika infection.•All newborns presented Zika virus (ZIKV) positivity by…”
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Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey by Horovitz, Dafne D G, Ribeiro, Márcia G, Acosta, Angelina X, Monteiro, Ana C, Botha, Jaco, Giugliani, Roberto

“…Abstract Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date;…”
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Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method by Andrade, Mirela F.A., Guimarães, Isabel Cristina B., Acosta, Angelina X., Leão, Emília Katiane E.A., Moreira, Moisés I.G., Mendes, Carlos Maurício C.

“…Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common…”
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Proteus syndrome: Clinical diagnosis of a series of cases by Alves, Cresio, Acosta, Angelina X, Toralles, Maria Betânia P

“…This paper describes the clinical diagnosis of Proteus syndrome (PS) in children referred for evaluation of asymmetric disproportionate overgrowth…”
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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) by Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos

“…The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality…”
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Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study by Horovitz, Dafne D.G., Leão, Emília K.E.A., Ribeiro, Erlane M., Martins, Ana M., Barth, Anneliese L., Neri, João I.C.F., Kerstenetzky, Marcelo, Siqueira, Ana C.M., Ribeiro, Bethania F.R., Kim, Chong A., Santos, Francisca C., Franco, José F.S., Lichtvan, Leniza C.L., Giuliani, Liane R., Rodrigues, Maria Do C.S., Bonatti, Renata C.F., Teixeira, Thaís B., Gonçalves, Alexandra, Lourenço, Charles M., Pereira, Ane S.S., Acosta, Angelina X.

“…Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional…”
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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil by Manzoli, Gabrielle N., Bademci, Guney, Acosta, Angelina X., Félix, Têmis M., Cengiz, F.Basak, Foster, Joseph, Da Silva, Danniel S. Dias, Menendez, Ibis, Sanchez‐Pena, Isalis, Tekin, Demet, Blanton, Susan H., Abe‐Sandes, Kiyoko, Liu, Xue Zhong, Tekin, Mustafa

“…Summary Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the…”
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Clinical Characterization of Mucolipidoses II and III: A Multicenter Study by Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Ribeiro, Erlane M., Lourenço, Charles M., Kim, Chong Ae, Valadares, Eugênia R., Galera, Marcial Francis, Acosta, Angelina X., Horovitz, Dafne Dain Gandelman, Schwartz, Ida Vanessa Doederlein

“…Abstract Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are…”
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series by Horovitz, Dafne Dain Gandelman, Acosta, Angelina X, Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C, Lopes Barth, Anneliese, Cardoso, Jr, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria

“…Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of…”
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Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil by Manzoli, Gabrielle N, Abe-Sandes, Kiyoko, Bittles, Alan H, da Silva, Danniel S.D, Fernandes, Luciene da C, Paulon, Roberta M.C, de Castro, Iza Cristina S, Padovani, Carla M.C.A, Acosta, Angelina X

“…Abstract Objective There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial…”
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Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I by Boy, Raquel, Schwartz, Ida V D, Krug, Bárbara C, Santana-da-Silva, Luiz C, Steiner, Carlos E, Acosta, Angelina X, Ribeiro, Erlane M, Galera, Marcial F, Leivas, Paulo G C, Braz, Marlene

“…Background/AimsMucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disorder treated with bone marrow transplantation or enzyme replacement therapy…”
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Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two‐dimensional speckle‐tracking method by Andrade, Mirela F.A., Guimarães, Isabel Cristina B., Acosta, Angelina X., Leão, Emília Katiane E.A., Moreira, Moisés I.G., Mendes, Carlos Maurício C.

“…Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common…”
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Identification of MPS clusters in Latin America: An opportunity for targeted health care programs by Kubaski, Francyne, Gameleira, Flávia, de Ferrán, Ceila Perez, Ramirez, Joany, Jaquez, Francisca, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Lopes, Simone S., de Medeiros, Paula F.V., Acosta, Angelina X., Sandes, Kiyoko A., Castro Moreira, Maria L., Quintero Montano, Hector P., Solano Villareal, Martha L., Barroso Sandoval, Heidy M., Bareiro, Rodolfo, Cossio, Gladys, Giugliani, Roberto

“…The mucopolysaccharidoses (MPS) include 11 rare disorders caused by deficiency of specific lysosomal enzymes resulting in the accumulation of undegraded…”
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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil: Deafness Genes Reveals a Founder MYO15A Variant Brazil by Manzoli, Gabrielle N., Bademci, Guney, Acosta, Angelina X., Félix, Têmis M., Cengiz, F.Basak, Foster, Joseph, Da Silva, Danniel S. Dias, Menendez, Ibis, Sanchez-Pena, Isalis, Tekin, Demet, Blanton, Susan H., Abe-Sandes, Kiyoko, Liu, Xue Zhong, Tekin, Mustafa

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Alternative laronidase dose regimen for patients with mucopolysaccharidosis i by Martins, Ana M., Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarina, Tchan, Michel C., Barth, Anneliese Lopes, Cardoso, Laercio, de Araújo Leão, Emilia Katiane Embiruçu, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman

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Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two‐dimensional speckle‐tracking method by Andrade, Mirela F.A., Guimarães, Isabel Cristina B., Acosta, Angelina X., Leão, Emília Katiane E.A., Moreira, Moisés I.G., Mendes, Carlos Maurício C.

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Is melanogenesis disturbed in mucolipidosis II/III? A multicenter study based on clinical and genetic findings by Alegra, Taciane, Sperb-Ludwig, Fernanda, de Cerqueira, Caio C.S., Ribeiro, Erlane M., Lourenço, Charles M., Kim, Chong A.E., Horovitz, Dafne D.G., Galera, Marcial F., Acosta, Angelina X., Bortolini, Maria C., Bau, Ana E.K., Schwartz, Ida V.D.

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Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia Clinical aspects of phenylketonuria in a reference service for neonatal screening in Bahia by Tatiana Amorim, Sara P.P. Gatto, Ney Boa-Sorte, Maria Efigênia Q. Leite, Maria Inês M. M. Fontes, Junaura Barretto, Angelina X. Acosta

“…OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do…”
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Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia by Amorim, Tatiana, Gatto, Sara P.P., Boa-Sorte, Ney, Leite, Maria Efigênia Q., Fontes, Maria Inês M. M., Barretto, Junaura, Acosta, Angelina X.

“…OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do…”
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Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infection by de Almeida, Breno Lima, Giovanetti, Marta, Oliveira, João Vitor, Carvalho, Tereza Cristina Xavier, Figueiredo, Eduardo Manoel, Pellegrini, Rosana, Calcagno, Juan Ignacio, Carneiro, Marcia Weber, de Oliveira, Juliana M G C, Faiçal, Adriana Virgínia Barros, Agra, Iluska Andrade, Salles, Cristina, Leão, Emília Katiane Embiruçu de Araújo, Lucena, Rita, Acosta, Angelina X, Alcantara, Luiz Carlos Junior, de Siqueira, Isadora Cristina

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