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SANTOS, JÉSSICA FERNANDES DOS ; Acosta, Angelina Xavier ; SCHEIBLER, GABRIELA GAYER ; PITANGA, PAULA MONIQUE LEITE ; ALVES, ESMERALDA SANTOS ; MEIRA, JOANNA GOES CASTRO ; ZANARDO, ÉVELIN ALINE ; KULIKOWSKI, LESLIE DOMENICI ; LIMA, RENATA LÚCIA LEITE FERREIRA DE ; CARVALHO, Acácia Fernandes Lacerda de . Case of 15q26-qter deletion associated with a Prader-Willi phenotype. European Journal of Medical Genetics , v. 63, p. 103955, 2020.
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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 . Identification of MPS clusters in Latin America: An opportunity for targeted health care programs. MOLECULAR GENETICS AND METABOLISM , v. 126, p. S87-S88, 2019.
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FAIÇAL, ADRIANA VIRGINIA ; DE OLIVEIRA, JULIANA CABRAL ; OLIVEIRA, JOÃO VITOR VIEIRA ; DE ALMEIDA, BRENO LIMA ; AGRA, ILUSKA ANDRADE ; ALCANTARA, L. C. J. ; ACOSTA, A. X. ; DE SIQUEIRA, ISADORA CRISTINA . Neurodevelopmental delay in normocephalic children with in utero exposure to Zika virus. BMJ Paediatrics Open , v. 3, p. e000486, 2019.
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BARROS FAIÇAL, ADRIANA VIRGÍNIA ; GOMES CABRAL DE OLIVEIRA, JULIANA MENEZES ; ANDRADE, NARA C. ; Acosta, Angelina Xavier ; CRISTINA DE SIQUEIRA, ISADORA . Social-Emotional Status Of Children With Uterine Exposure To The Zika Virus. PEDIATRIC NEUROLOGY , v. -, p. -, 2019.
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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 . Clinical Characterization of Mucolipidoses II and III: A Multicenter Study. JOURNAL OF PEDIATRIC GENETICS , v. 8, p. 198-204, 2019.
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OLIVEIRA, M. R. ; SCHWARTZ, I. ; COSTA, L. S. ; MAIA, H. ; RIBEIRO, M. ; GUERREIRO, L. B. ; ACOSTA, A. ; ROCHA, N. S. . Quality of life in mucopolysaccharidoses: construction of a specific measure using the focus group technique. BMC RESEARCH NOTES , v. 11, p. 1-7, 2018.
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ANDRADE, MIRELA F.A. ; GUIMARÃES, ISABEL CRISTINA B. ; ACOSTA, ANGELINA X. ; LEÃO, EMÍLIA KATIANE E.A. ; MOREIRA, MOISÉS I.G. ; MENDES, CARLOS MAURÍCIO C. . Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method. Jornal de Pediatria , v. 682, p. 1-7, 2018.
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MEIRA, J. G. C. ; FARIA, A. C. O ; SARNO, M. ; YAMAMOTO, G. T. ; SCHEIBLER, G. G. ; TAVARES, D. F. ; ACOSTA, A. X. ; Bertola, D.R. . Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRÍCIA (IMPRESSO) , v. 40, p. 570-576, 2018.
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LOPES, S. A. V. A. ; GUIMARAES, I. C. B. ; ACOSTA, A. X. . Mortality for Critical Congenital Heart Diseases and Associated Risk Factors in Newborns. A Cohort Study. Arquivos Brasileiros de Cardiologia , p. 01, 2018.
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GIOVANETTI, MARTA ; DE JESUS, JAQUELINE GOES ; LIMA DE MAIA, MARICELIA ; JUNIOR, JOILSON XAVIER ; AMARANTE, MARIA FERNANDA CASTRO ; VIANA, PALOMA ; BARRETO, FERNANDA KHOURI ; DE CERQUEIRA, ERENILDE MARQUES ; SANTOS, NORMEIDE PEDREIRA ; FALCÃO, MELISSA BARRETO ; MACHADO COSTA, MARCELA C. ; BARROS FAIÇAL, ADRIANA VIRGÍNIA ; ANDRADE DE MELO, ANA LUIZA ; AMORIM, LUCIANE SANTOS ; DE SIQUEIRA, ISADORA CRISTINA ; MACARENHAS, DENISE LIMA ; BISPO DE FILIPPIS, ANA MARIA ; FARIA, NUNO RODRIGUES ; Acosta, Angelina Xavier ; ALCANTARA, LUIZ CARLOS JUNIOR . Genetic evidence of Zika virus in mother?s breast milk and body fluids of a newborn with severe congenital defects.. CLINICAL MICROBIOLOGY AND INFECTION , v. 18, p. 30467, 2018.
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CERONI, J. R. M. ; DUTRA, R. L. ; HONJO, R. S. ; LLERENA, J. C. ; ACOSTA, A. X. ; MEDEIROS, P. F. V. ; GALERA, M. F. ; ZANARDO, É. A. ; PIAZZON, F. B. ; DIAS, A. T. ; NOVO-FILHO, G. M. ; MONTENEGRO, M. M. ; MADIA, F. A. R. ; BERTOLA, D. R. ; DE MELO, J. B. ; KULIKOWSKI, L. D. ; KIM, C. A. . A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. Scientific Reports , v. 8, p. 1, 2018.
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CERQUEIRA, T. L. O. ; RAMOS, Y. R. ; STRAPPA, G. B. ; JESUS, M. S. ; SANTOS, J. G. ; SOUSA, C. ; CARVALHO, G. ; FERNANDES, V. ; BOA-SORTE, N. ; AMORIM, T. ; SILVA, T. M. ; LADEIA, A. M. T. ; ACOSTA, A. X. ; RAMOS, H. E. . Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis. ARCHIVES OF ENDOCRINOLOGY AND METABOLISM , v. 62, p. 466-471, 2018.
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CABRAL, J. ; FAIÇAL, A. ; ALMEIDA, B. ; OLIVEIRA, J.V. ; EMBIRUÇU, E. ; FERREIRA, N. ; REIS, L. ; SALLES, C. ; CABRAL, B. ; COSTA, B. ; FRANCISCO, M.V. ; Santos, C. ; ALCANTARA, L.C. ; ACOSTA, A. ; SIQUEIRA, I. . Neurodevelopmental delays arising from in utero exposure to Zika virus in Salvador, Brazil. INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES , v. 73, p. 48-49, 2018.
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OLIVEIRA, J. L. ; CAMELIER, F. W. R. ; JESUS, F. R. ; Rosa Maria Alves Barreto ; FERREIRA, P. P. ; RAMOS, Regina Terse ; EMBIRUÇU DE ARAÚJO LEÃO, EMÍLIA KATIANE ; ACOSTA, ANGELINA X. ; MENDES, C. M. C. . Perfil ventilatório e capacidade funcional de pacientes com mucopolissacaridoses. Fisioterapia Brasil , v. 18, p. 69, 2017.
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LUDWIG, NATANIEL FLORIANO ; VELHO, RENATA VOLTOLINI ; SPERB-LUDWIG, FERNANDA ; Acosta, Angelina Xavier ; Ribeiro, Erlane Marques ; KIM, CHONG A. ; GANDELMAN HOROVITZ, DAFNE DAIN ; BOY, Raquel ; RODOVALHO-DORIQUI, MARIA JULIANA ; Lourenço, Charles Marques ; Santos, Emerson Santana ; BRAULKE, THOMAS ; POHL, SANDRA ; Schwartz, Ida Vanessa D. . GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY , v. 92, p. 90-94, 2017.
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HOROVITZ, DAFNE DAIN GANDELMAN ; ACOSTA, ANGELINA X. ; GIUGLIANI, Roberto ; HLAVATÁ, ANNA ; HLAVATÁ, KATARÍNA ; TCHAN, MICHEL C. ; LOPES BARTH, ANNELIESE ; CARDOSO, LAERCIO ; EMBIRUÇU DE ARAÚJO LEÃO, EMÍLIA KATIANE ; ESPOSITO, ANA CAROLINA ; KYOSEN, SANDRA OBIKAWA ; DE SOUZA, CAROLINA FISCHINGER MOURA ; Martins, Ana Maria . Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series. Orphanet Journal of Rare Diseases , v. 11, p. 2-8, 2016.
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MANZOLI, G. N. ; BADEMCI, GUNEY ; ACOSTA, A. 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 . Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. Annals of Human Genetics (Print) , v. 80, p. 327-331, 2016.
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LOPES, J. C. ; ACOSTA, A. X. ; TERSE, Regina . Polysomnographic Characteristics of Patients with Mucopolysaccharidosis VI Undergoing Enzyme Re- placement Therapy. J Sleep Med Disord , v. 2, p. 1016-1022, 2015.
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HOROVITZ, D. ; ACOSTA, A. X. ; GIULIANI, Liane de Rosso ; RIBEIRO, ERLANE M. . Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children. Molecular Genetics and Metabolism Reports , v. 5, p. 19-25, 2015.
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LEITE, R. B. ; LEITE, Maria Efigênia ; FREIRAS, J. D. D. ; MENDES, C. M. C. ; DEIRO, T. C. B. J. ; Acosta, Angelina Xavier . Avaliação do consumo alimentar de pacientes com mucopolissacaridose. Scientia Medica (PUCRS. Impresso) , v. 24, p. 19-25, 2014.
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ALEGRA, T. ; KOPPE, T. ; Acosta, Angelina Xavier ; SARNO, M. ; BURIN, M. ; KESSLER, R. G. ; SPERB-LUDWIG, F. ; CURY, G. ; BALDO, G. ; MATTE, U. ; GIUGLIANI, Roberto ; SCHWARTZ, Ida . Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. Meta Gene , v. 2, p. 403-406, 2014.
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OLIVERIRA, J. L. ; LOPES, J. C. ; TERSE, Regina ; OLIVEIRA, J. L. ; ACOSTA, A. X. . Evaluation of Sleep Architecture and Respitarory Profile in Children With Mucopolysaccharidosis Type VI Before and After Enzyme Replacenebt Therapy. Journal of INBORN ERROS of METABOLISM and SCREENING , v. I, p. 75, 2014.
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GIUGLIANI, Roberto ; VILLARREAL, MARTHA LUZ SOLANO ; VALDEZ, C. ARACELI ARELLANO ; HAWILOU, ANTONIETA MAHFOUD ; GUELBERT, NORBERTO ; GARZÓN, LUZ NORELA CORREA ; MARTINS, A. M. ; ACOSTA, A. X. ; Cabello, Juan Francisco ; LEMES, AÍDA ; SANTOS, MARA LUCIA SCHMITZ FERREIRA ; Amartino, Hernán . Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genetics and Molecular Biology (Impresso) , v. 37, p. 315-329, 2014.
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Costa-Motta, Fabiana Moura ; Bender, Fernanda ; Acosta, Angelina ; ABÉ-SANDES, Kiyoko ; MACHADO, TAÍSA ; BOMFIM, THAÍS ; BOA SORTE, TATIANA ; DA SILVA, DANNIEL ; BITTLES, ALAN H. ; GIUGLIANI, Roberto ; Leistner-Segal, Sandra . A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity. Human Heredity , v. 77, p. 189-196, 2014.
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ACOSTA, A. X. ; ABÉ-SANDES, K. ; GIUGLIANI, R. ; BITTLES, A. H. . Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil. Journal of Genetic Counseling , v. OCt 20, p. PMID: 23338802, 2013.
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HOROVITZ, DAFNE D.G. ; MAGALHÃES, TATIANA S.P.C. ; Acosta, Angelina ; RIBEIRO, ERLANE M. ; GIULIANI, LIANE R. ; PALHARES, DURVAL B. ; KIM, CHONG A. ; de Paula, Ana Carolina ; Kerstenestzy, Marcelo ; PIANOVSKI, MARA A.D. ; COSTA, MARIA IONE F. ; SANTOS, FRANCISCA C. ; Martins, Ana Maria ; Aranda, Carolina S. ; NETO, JORDÃO CORREA ; HOLANDA, GERVINA BRADY MOREIRA ; CARDOSO, LAÉRCIO ; DA SILVA, CARLOS A.B. ; BONATTI, RENATA C.F. ; RIBEIRO, BETHANIA F.R. ; RODRIGUES, MARIA DO CARMO S. ; LLERENA, JUAN C. . Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Molecular Genetics and Metabolism (Print) , v. 109, p. 62-69, 2013.
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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. . Non-syndromic hearing impairment in a multi-ethnic population of Northeastern Brazil. International Journal of Pediatric Otorhinolaryngology (Print) , v. 77, p. 1077-1082, 2013.
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CURY, G.K. ; MATTE, U. ; Artigalás, O. ; ALEGRA, T. ; VELHO, R.V. ; SPERB, F. ; BURIN, M. ; RIBEIRO, E.M. ; LOURENÇO, C.M. ; KIM, C.A. ; VALADARES, E.R. ; GALERA, M.F. ; ACOSTA, A.X. ; SCHWARTZ, I.V.D. . Mucolipidoses II and III alpha/beta in Brazil: Analysis of the GNPTAB gene. Gene (Amsterdam) , v. 524, p. 59-64, 2013.
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BRUSIUS-FACCHIN, A.C. ; SCHWARTZ, I.V.D. ; ZIMMER, C. ; RIBEIRO, M.G. ; ACOSTA, A.X. ; HOROVITZ, D. ; MONLLEÓ, I.L. ; FONTES, M.I.B. ; FETT-CONTE, A. ; SOBRINHO, R.P. OLIVEIRA ; DUARTE, A.R. ; BOY, R. ; MABE, P. ; ASCURRA, M. ; DE MICHELENA, M. ; TYLEE, K.L. ; BESLEY, G.T.N. ; GARRETON, M.C.V. ; GIUGLIANI, R. ; LEISTNER-SEGAL, S. . Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients. Molecular Genetics and Metabolism (Print) , v. 111, p. 133-138, 2013.
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MATOS, MARCOS ; BARRETO, ROSA ; Acosta, Angelina . Evaluation of Motor Response in Mucopolysaccharidosis Patients Treated with Enzyme Replacement Therapy. Ortopedia, Traumatologia, Rehabilitacja , v. 15, p. 389-393, 2013.
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MATOS, MARCOS ALMEIDA ; PRADO, ANDRÉ ; SCHENKEL, GUSTAVO ; BARRETO, ROSA ; Acosta, Angelina Xavier . Gasto energético na marcha em pacientes com mucopolissacaridose. Acta Ortopédica Brasileira (Impresso) , v. 21, p. 116-119, 2013.
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ALVES, CRESIO ; ACOSTA, ANGELINAX ; TORALLES, MARIA BETÂNIAP . Proteus syndrome: Clinical diagnosis of a series of cases. Indian Journal of Endocrinology and Metabolism , v. 17, p. 1053, 2013.
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Santos, Emerson Santana ; Oliveira, H. ; Costa, D. ; AMORIM, Tatiana ; Acosta, Angelina . Genetic and clinical characterization of patients with phenylketonuria in Alagoas state, Brazil. Scientia Medica (Porto Alegre. Online) , v. 22, p. 64, 2012.
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MACHADO, T. M. B. ; BOMFIM, T. F. ; SOUZA, L. V. ; SOARES, N. ; SANTOS, F. L. ; ACOSTA, A. X. ; ABE-SANDES, K. . TYPES OF MARRIAGES, POPULATION STRUCTURE AND GENETIC DISEASE. Journal of Biosocial Science (Print) , v. 1, p. 1-10, 2012.
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BOY, Raquel ; SCHWARTZ, Ida ; Bárbara C Krug ; SILVA, Luiz Carlos Santana da ; Carlos Steiner ; ACOSTA, A. X. ; RIBEIRO, Erlane ; F Marcial ; Paulo Leivas ; Marlene Braz . Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I. Journal of Medical Ethics , v. 37, p. 233-239, 2011.
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TERSE, Regina ; SALLES, Cristina ; Daltro, CHC ; SANTANA, Maria Angelica ; Paoloma Gregório Baiardi ; ACOSTA, A. X. . Sleep architecture and polysomnographic respiratory profile of children and adolescents with cystic fibrosis. Jornal de Pediatria (Impresso) , v. 87, p. 1-7, 2011.
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AMORIM, Tatiana ; BOASORTE, Ney ; LEITE, Maria Efigênia ; ACOSTA, A. X. . ASPECTOS CLÍNICOS E DEMOGRÁFICOS DA FENILCETONÚRIA NA BAHIA - BRASIL. Revista Paulista de Pediatria (Impresso) , v. 29, p. 612-617, 2011.
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Costa-Motta, Fabiana Moura ; Acosta, Angelina Xavier ; ABÉ-SANDES, Kiyoko ; Bender, Fernanda ; Schwartz, Ida Vanessa D. ; GIUGLIANI, Roberto ; Leistner-Segal, Sandra . Genetic Studies In A Cluster Of Mucopolysaccharidosis Type Vi Patients In Northeast Brazil. Molecular Genetics and Metabolism (Print) , v. 104, p. 603-607, 2011.
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Bicalho, Cibele Gomes ; Rezende, Morena Morais ; Nogueira, Ana Maria Carrilho Moinhos ; Paulon, Roberta Melo Calvoso ; Acosta, Angelina Xavier . A importância da avaliação otorrinolaringológica de pacientes com mucopolissacaridose. @rquivos internacionais de otorrinolaringologia (Impresso) , v. 15, p. 290-294, 2011.
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Villas-Bôas, Flávia Silva ; Fernandes Filho, Dilson José ; ACOSTA, A. X. . Achados oculares em pacientes com mucopolissacaridoses. Arquivos Brasileiros de Oftalmologia (Impresso) , v. 74, p. 430-434, 2011.
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GIUGLIANI, Roberto Federhen, Andressa Muoz Rojas, Maria Verónica Vieira, Taiane Alves Artigalás, Osvaldo Pinto, Louise Lapagesse Carmargo Azevedo, Ana Cecília ACOSTA, A. X. Bomfim, Carmem Lourenço, Charles Marques Kim, Chong Ae Horovitz, Dafne Souza, Denize Bomfim Norato, Denise Marinho, Diane Palhares, Durval Santos, Emerson Santana RIBEIRO, Erlane Valadares, Eugênia Ribeiro Guarany, Fábio De Lucca, Gisele Rosone Pimentel, Helena Souza, Isabel Neves de Corrêa Neto, Jordão Fraga, José Carlos , et al. Góes, José Eduardo Cabral, José Maria Simeonato, José Llerena Jr, Juan Clinton Jardim, Laura Bannach Giuliani, Liane de Rosso SILVA, Luiz Carlos Santana da Santos, Mara Moreira, Maria Ângela Kerstenetzky, Marcelo Ribeiro, Márcia Ruas, Nicole Barrios, Patricia Aranda, Paulo Honjo, Rachel ; Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros. Revista da Associação Médica Brasileira (1992. Impresso) , v. 56, p. 271-277, 2010.
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SILVA, Edinete Melo da ; ACOSTA, A. X. ; SANTOS, Eduardo José Melo dos ; Denise Lemaire ; OLIVEIRA, Adriano S ; Carolina Matos Barbosa ; Maria Teresita Bendicho ; GALVÃOCASTRO, Bernardo ; BRITES, Carlos . HLA-Bw4-B*57 and Cw*18 alleles are associated with plasma viral load modulation in HIV-1 infected individuals in Salvador, Brazil. The Brazilian Journal of Infectious Diseases (Impresso) , v. 14, p. 468-475, 2010.
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GRIMALDI, R. ; ACOSTA, A. X. ; MACHADO, Taisa Manuela Bonfim ; BOMFIM, Thaís Ferreira ; Galvão-Castro, Bernardo . Distribution of SDF1-3'A polymorphisms in three different ethnic groups from Brazil. The Brazilian Journal of Infectious Diseases (Impresso) , v. 14, p. 197-200, 2010.
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Abe-Sandes, Kiyoko ; BOMFIM, Thaís Ferreira ; MACHADO, Taisa Manuela Bonfim ; Abe-Sandes, Camila ; ACOSTA, A. X. ; Alves, Carlos Roberto Brites ; CASTRO FILHO, Bernardo Galvão . Ancestralidade Genômica, nível socioeconômico e vulnerabilidade ao HIV/aids na Bahia, Brasil. Saúde e Sociedade (USP. Impresso) , v. 19, p. 75-84, 2010.
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GIUGLIANI, Roberto Federhen, Andressa Muoz Rojas, Maria Verônica Vieira, Taiane Artigalás, Osvaldo Lapagesse Pinto, Louise Azevedo, Ana Cecília ACOSTA, A. X. Bonfim, Carmen Lourenço, Charles Marques Chong Ae, Kim Horovitz, Dafne Bonfim, Denize Norato, Denise Marinho, Diane Palhares, Durval Santos, Emerson Santana RIBEIRO, Erlane Valadares, Eugênia Guarany, Fábio Lucca, Gisele Rosone de Pimentel, Helena Souza, Isabel Neves de Correa Neto, Jordão Fraga, José Carlos , et al. Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Jr., Juan Jardim, Laura Giuliani, Liane SILVA, Luiz Carlos Santana da Santos, Mara L. Moreira, Maria Angela Kerstenetzky, Marcelo Ribeiro, Márcia Ruas, Nicole Barrios, Patricia Aranda, Paulo Honjo, Rachel ; Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology (Impresso) , v. 33, p. 589-604, 2010.
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RAMOS, Regina Terse ; Cristina Salles ; Gregório, P.B. ; Barros, A. T. ; SANTANA, Angelica ; Araújo-Filho, J.B. ; ACOSTA, A. X. . Evaluation of the upper airway in children and adolescents with cystic fibrosis and obstructive sleep apnea syndrome. International Journal of Pediatric Otorhinolaryngology (Print) , v. 73, p. 1780-1785, 2009.
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SCHWARTZ, I. V. D. ; LLC, Pinto ; BREDA, G ; LIMA, L. ; RIBEIRO, M.G. ; MOTA,J.G. ; ACOSTA, A. X. ; CORREIA, P ; HOROVITZ, DAFNE D.G ; PORCIUNCULA, C.G.G. ; LIPINSKI-FIGUEIREDO, E. ; FETT-CONTE, A. ; OLIVEIRA-SOBRINHO, R.P. ; NORATO, D. ; PAULA ,A.C. ; KIM, C.A. ; Duarte, AR ; da SILVA, R.T.B. ; LEISTNERSEGAL, Sandra ; BURIN, M.G. ; GIUGLIANI, R . Clinical and Biochemical Studies in Mucopolysaccharidosis Type II Carries.. Journal of Inherited Metabolic Disease , v. 32, p. 1573-2665, 2009.
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MEIRA, J. G. C. ; ACOSTA, A. X. . Políticas de saúde pública aplicadas à genética médica no Brasil. Revista Ciências Médicas e Biológicas , v. 8, p. 189-197, 2009.
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VIEIRA, T. A. ; SCHWARTZ, Ida ; Veronica Muoz ; PINTO, Louise L C ; Carlos Steiner ; RIBEIRO, M. ; BOY, Raquel ; FERRAZ, V. E. F. ; Ana de Paula ; KIM, C. ; ACOSTA, A. X. ; GIUGLIANI, Roberto . Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?. American Journal of Medical Genetics , v. 146A, p. 1741-1747, 2008.
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GADELHA, Sandra Rocha ; Junior Alcântara, Luiz Carlos ; Costa, Gisele Calazans ; ACOSTA, A. X. ; RIOS, Domingos ; KASHIMA, Simone ; COVAS, Dimas Tadeu ; Galvão-Castro, Bernardo . Correlation between polymorphisms at interleukin-6 but not at interleukin-10 promoter and the risk of human T lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis in Brazilian individuals. Journal of Medical Virology , v. 80, p. 2141-2146, 2008.
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Steiner, C. E. ; ACOSTA, A. X. ; FARIA, A. P. M. ; Guerreiro, M.M. . Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior. Arquivos de Neuro-Psiquiatria , v. 65, p. 202-205, 2007.
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COSTA, Fabiana Maia Moura ; SANTANA, Maria Angelica ; LEMOS, A. C. M. ; ACOSTA, A. X. . Low Frequency of the Delta F508 Mutation of the CFTR Gene ina Highly Admixed Population in Bahia, Brazil. Human Biology , v. 79, p. 293-298, 2007.
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GÓMEZ, Marcela Kelly Astete ; ACOSTA, A. X. . Aspectos gerais da Síndrome do X-Frágil: principal causa hereditária de retardo mental. Revista de Ciências Médicas e Biológicas , v. 6, p. 197-203, 2007.
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OLIVEIRA FILHO, Fernando Cezar Cabral de ; Lígia C. Albuquerque ; Camila São Paulo ; Amanda M. Lacerda ; Fernando N. Fortuna ; Samuel Farias ; Daniel Portela ; Ágnor Christi ; ACOSTA, A. X. . Defeitos Congênitos ? Tópicos Relevantes. Gazeta Médica da Bahia , v. 77, p. S32-S39, 2007.
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CAMELIER, Vanessa ; Rafael Ramos ; Vitor Francisco Pereira ; REIS, T. V. B. ; Gisele Amorim ; Eduardo Cerqueira ; Igor Basílio ; Vitor Hugo Pastorini Filho ; ACOSTA, A. X. . Estudo do Campo 34 na Bahia e em Salvador: Impacto na Notificação das Malformações Congênitas. Gazeta Médica da Bahia , v. 77, p. S55-S59, 2007.
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Tiago A. de Oliveira ; Diego R. Moura ; Thais S. Santana ; ARAÚJO, C. H. ; Adriana H. de M. Fontes ; Marcele R. Brandão ; Rafael F. de Santana ; Tarcisio M. Barreto ; ACOSTA, A. X. . A Importância do Diagnóstico Precoce na História Natural da Criança com Síndrome de Down. Gazeta Médica da Bahia , v. 77, p. S69-S74, 2007.
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ALMEIDA, Alessandro ; GODINHO, Tiana ; SILVA, A. P. P. R. ; Jalil, H. M. ; FUKUDA, T. G. ; ARAÚJO, E. P. ; MATOS, Eduardo ; MURITIBA JÚNIOR, D. C. ; DIAS, Camila ; PIMENTEL, H. M. ; FONTES, M. I. M. M. ; ACOSTA, A. X. . Avaliação do Programa de Triagem Neonatal na Bahia no ano de 2003. Revista Brasileira de Saúde Materno Infantil , v. 6, n.1, p. 85-91, 2006.
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PINTO, Louise L C ; SCHWARTZ, Ida ; PUGA, Ana ; VIEIRA, T. A. ; ROJAS, Maria Verónia Muoz ; GIUGLIANI, Roberto ; II, Grupo de Estudo Sobre Mps ; ACOSTA, A. X. . Avaliação prospectiva de 11 pacientes brasileiros com Mucopolissacaridose II. Jornal de Pediatria , v. 82, n.4, p. 273-278, 2006.
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AMORIM, Tatiana ; GATTO, Sara ; LEITE, Maria Efigênia ; FONTES, M. I. M. M. ; BARRETO, Junaura ; SORTE, Ney Boa ; ACOSTA, A. X. . Aspectos clínicos da fenilcetonúria no serviço de referência em triagem neonatal da Bahia. Revista Brasileira de Saúde Materno Infantil , v. 5, n.4, p. 457-462, 2005.
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EMBIRUÇU, Emilia Katiane ; BOASORTE, Ney ; VIDAL, Renata ; LESSA, Licemary ; PANÃO, Eliana ; MOTA, Ana Carolina ; SANTANA, Tirza ; ARAÚJO, Indira ; TORALLES, Maria Betânia ; ACOSTA, A. X. . Risco teratogênico: a percepção em diferentes segmentos da população. Revista de Ciências Médicas e Biológicas , Bahia, v. 4, n.3, p. 200-206, 2005.
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GRIMALDI, Rogério ; ACOSTA, A. X. ; CABRAL-OLIVEIRA, F. C. ; BRITES, Carlos ; GALVÃO-CASTRO, Bernardo . Study of the CCR5-m303 mutation in three different ethnic groups from Brazil. Genetics and Molecular Biology (Impresso) , v. 28, p. 214-217, 2005.
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FARIA, A. P. M. ; FERRAZ, V. E. F. ; ACOSTA, A. X. ; BRUNONI, Décio . Clinical genetics in developing countries: the case of Brazil. Community Genetics , Switzerland, v. 7, n.2-3, p. 95-105, 2004.
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ACOSTA, A. X. ; SAMPAIO, R. G. ; SPÍNOLA, J. L. ; GALVÃOCASTRO, Bernardo . Distribution of the CCR2-64I allele in three Brazilian ethnic groups. Genetics and Molecular Biology , Brasil, v. 26, n.3, p. 241-243, 2003.
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GRIMALDI, R. ; SCHINDO, N. ; ACOSTA, A. X. ; DOURADO, I. ; BRITES, Carlos ; CARVALHO, O. M. ; BRITO, I. ; BOUHABIB, D. C. ; GALVÃOCASTRO, Bernardo . Prevalence of the CCR5 D32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection. Human Genetics , v. 111, n.1, p. 102-104, 2002.
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MELO, D. G. ; ACOSTA, A. X. ; SALLES, M. A. A. ; PINA-NETO, J. M. ; CASTRO, J. D. V. ; SANTOS, A. C. . Sotos Syndrome (Cerebral Gigantism): Analysis of 8 Cases. Arquivos de Neuro-Psiquiatria , Brasil, v. 60, n.2, p. 234-238, 2002.
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SILVA, D. N. ; DANTAS, L. C. ; ALVES, C. ; ACOSTA, A. X. ; TORALLES, M. B. P. . Relato de Caso de Hemi-Hiperplasia Corporal: Síndrome de Proteus?. Boletim SBEM Bahia , v. 14, n.n 14, p. 32-34, 2002.
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ACOSTA, A. X. ; W.A. Silva Jr ; T.M. Carvalho ; M. Gomes ; ZAGO, Marco Antonio . The Mutations of the Phenylalanine Hydroxylase Gene in Brazilian Patients with Phenylketonuria.. Human Mutation , USA, v. 17, n.2, p. 122-130, 2001.
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ACOSTA, A. X. ; W.A. Silva Jr ; TM Carvalho ; ZAGO, Marco Antonio . Ten Novel Mutations in the Phenylalanine Hydroxylase Gene Observed in Brazilian Patients with Phenylketonuria.. Human Mutation , USA, v. 17, n.1, p. 77-77, 2001.
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GJETTING, T ; ROMSTAD, A. ; HAAVIK, J ; KNAPPSKOG, P.M ; ACOSTA, A. X. ; SILVA-JR, W.A ; ZAGO, Marco Antonio ; GULDBERG, P. ; GÜTTLER, F . A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics. Molecular Genetics and Metabolism , v. 73, n.3, p. 280-284, 2001.
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ACOSTA, A. X. ; LC, P. ; LC, C. ; JM, P. . Raine dysplasia: a Brazilian case with a mild radiological involvement.. Clinical Dysmorphology, v. 9, n.2, p. 99-101, 2000.
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MELO, D. G. ; PINA-NETO, J. M. ; CASTRO, J. D. V. ; ACOSTA, A. X. ; SANTOS, A. C. . Neuroimaging and Echocardiographic Findings in Sotos Syndrome. American Journal of Medical Genetics , USA, v. 90, n.5, p. 432-4, 2000.
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MELO, D. G. ; ACOSTA, A. X. ; PINA-NETO, J. M. . Syndrome of Psychomotor Retardation. Bulbous Nose, and Epilepsy (Hernandez Syndrome): A Brazilian Case. Clinical Dysmorphology , Londres, v. 8, n.4, p. 301-303, 1999.
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ACOSTA, A. X. ; PERES, L. C. ; MAZZUCATTO, L. F. ; PINA-NETO, J. M. . A Viable Fetus Presenting 68,XX[73]/69,XXX[27] Triploid Mosaicism. Brazilian Journal of Genetics , Brasil, v. 21, n.3, p. 307-310, 1998.
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PERES, L. C. ; FERRAZ, V. E. F. ; ACOSTA, A. X. ; ROJAS, M. V. M. ; NOCE, T. R. ; PINA-NETO, J. M. . A importância do trabalho conjunto entre genética médica e patologia.. Jornal do Anatomopatologista, v. 11, n.1, 1996.
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FERREIRA, A. P. S. ; ACOSTA, A. X. ; PINA-NETO, J. M. ; RAMOS, E. S. . Coffin-Siris Syndrome in a Child with Consanguineous Parents. Brazilian Journal of Genetics , v. 18, n.2, p. 339-341, 1995.
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ACOSTA, A. X. ; SAMPAIO, R. G. ; SPÍNOLA, J. L. ; ARGOLLO, M. C. ; CASTRO FILHO, Bernardo Galvão . Distribution of CCR2 64I and SDF-1 801 3A polymorphisms in three different ethnic groups from Brazil. Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases , v. 2, n.3, p. 224-224, 2003.
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MC, Foss ; RM, Montenegro ; GMFG, Paccola ; LMFB, Gouveia ; ACOSTA, A. X. . Clinical variability of familial partial lipodystrophy (Kobberling-Dunnigan syndrome) in 3 families from the Ribeirao Preto region, Sao Paulo, Brazil. Diabetologia , SPRINGER-VERLAG, 175 FIFTH AVE, v. 44, n.864, p. A225-A225, 2001.