Search Results - "Pinto, Louise Lapagesse de Camargo"

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD by Chaves, Tiago Fernando, Ocampos, Maristela, Barbato, Ingrid Tremel, de Camargo Pinto, Louise Lapagesse, de Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Bernardi, Priscila, Costa Netto Muniz, Yara, Francesca Maris, Angelica

“…Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as…”
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Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil by Chaves, Tiago Fernando, Baretto, Nathacha, Oliveira, Luan Freitas de, Ocampos, Maristela, Barbato, Ingrid Tremel, Anselmi, Mayara, De Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Pinto, Louise Lapagesse de Camargo, Bernardi, Pricila, Maris, Angelica Francesca

“…Chromosomal microarray (CMA) is now recommended as first tier for the evaluation in individuals with unexplained neurodevelopmental disorders (ND). However, in…”
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Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions by Aranda, Carolina Sanchez, Aun, Marcelo Vivolo, Souza, Carolina Fischinger Moura de, Pinto, Louise Lapagesse de Camargo, Porras-Hurtado, Gloria Liliana, Salgado, Omar Francisco Sierra, Arantes, Rodrigo Rezende, Martins, Ana Maria, Solé, Dirceu

“…Clinical Implications Enzyme replacement therapy (ERT) discontinuation significantly worsens visceromegaly, respiratory function, and walking capacity in…”
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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations by de Camargo Pinto, Louise Lapagesse, Maluf, Sharbel Weidner, Leistner-Segal, Sandra, Zimmer da Silva, Camila, Brusius-Facchin, Ana, Burin, Maira Graef, Brustolin, Silvia, Llerena, Juan, Moraes, Lucia, Vedolin, Leonardo, Schuch, Alice, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

“…For some X‐linked disorders the expressivity and penetrance in females are almost similar to those ones found in males. For mucopolysaccharidosis type II (MPS…”
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Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI by Giugliani, Roberto, Carvalho, Clarissa Gutiérrez, Herber, Silvani, de Camargo Pinto, Louise Lapagesse

“…Mucopolysaccharidosis VI is caused by accumulation of the glycosaminoglycan dermatan sulfate in all tissues due to decreased activity of the enzyme…”
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Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study by dos Santos, Thamires Rosa, Carlucci, Nicoly Stefani Sevalho, de Avó, Lucimar Retto da Silva, Barbato, Ingrid Tremel, Pinto, Louise Lapagesse de Camargo, Pilotto, Rui Fernando, Germano, Carla Maria Ramos, Melo, Débora Gusmão

“…This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were…”
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Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil by Chaves, Tiago Fernando, Oliveira, Luan Freitas, Ocampos, Maristela, Barbato, Ingrid Tremel, de Luca, Gisele Rozone, Barbato Filho, Jorge Humbeto, de Camargo Pinto, Louise Lapagesse, Bernardi, Pricila, Maris, Angelica Francesca

“…Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations…”
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Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients by Basgalupp, Suelen P., Siebert, Marina, Vairo, Filippo Pinto e, Chami, Anisse Marques, Pinto, Louise Lapagesse de Camargo, Carvalho, Gerson da S., Schwartz, Ida Vanessa D.

“…Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP)…”
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Orthopedic manifestations in patients with muco­polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey by Link, Bianca, Louise Lapagesse de Camargo Pinto, Giugliani, Roberto, Wraith, James Edmond, Guffon, Nathalie, Eich, Elke, Beck, Michael

“…Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare, inherited disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. As…”
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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network by Dornelles, Alícia Dorneles, de Camargo Pinto, Louise Lapagesse, de Paula, Ana Carolina, Steiner, Carlos Eduardo, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne Dain Gandelman, Ribeiro, Erlane Marques, Valadares, Eugênia Ribeiro, Goulart, Isabela, Neves de Souza, Isabel C, da Costa Neri, João Ivanildo, Santana-da-Silva, Luiz Carlos, Silva, Luiz Roberto, Ribeiro, Márcia, de Oliveira Sobrinho, Ruy Pires, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

“…Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of…”
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Combined chemotherapy and teratogenicity by Paskulin, Giorgio Adriano, Gazzola Zen, Paulo Ricardo, de Camargo Pinto, Louise Lapagesse, Rosa, Rafael, Graziadio, Carla

“…BACKGROUND The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and…”
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Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion by Graziadio, Carla, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Pinto, Louise Lapagesse de Camargo, Barea, Liselotte Menke, Paskulin, Giorgio Adriano

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Prenatal diagnosis of Pompe disease by Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kessler, Rejane Gus, Tirelli, Kristiane M., Pasetto, Fernanda B., Sebastião, Fernanda M., Kubaski, Francyne, de Camargo Pinto, Louise Lapagesse, Giugliani, Roberto

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PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL by Tresbach, Rafael Hencke, Ludwig, Fernanda Sperb, Vieira, Marta Wey, Costa, Roseli Divino, Freitas, Pedro Eduardo Bonfim, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, Galera, Marcial Francis, Cunha, Keyla Christy Christine Mendes Sampaio, de Souza, Cézar Antônio Abreu, Januário, José Nélio, Aguiar, Marcos José Burle, Schwartz, Ida Vanessa Doederlein

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General overview of urea cycle disorders (UCDs) in Brazil by Schwartz, Ida Vanessa Doederlein, dos Santos, Mariana Lopes, Fink, Isabela Alicia, de Bitencourt, Fernanda Fernanda Hendges, Sperb-Ludwig, Fernanda, Refosco, Lilia Farret, de Souza, Carolina Fischinger Moura, Poswar, Fabiano Oliveira, Vieira, Marta Wey, Moretzsohn, Monica, Curiati, Marco Antonio, Santos, Mara Lúcia Schmitz Ferreira, do Valle, Daniel Almeida, Menezes, Ana Cecília, da Silva Baptista Arpini, Luana, Heredia, Romina Soledad, da Silva, Luiz Carlos Santana, de Camargo Pinto, Louise Lapagesse, de Rosso Giuliani, Liane, Adjuto, Giselle Maria Araujo Felix, de Distúrbios do Ciclo da Uréia, Grupo Brasileiro

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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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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III by Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra

“…Purpose Pathogenic variants in GNPTAB and GNPTG , encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta,…”
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Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects by Giugliani, Roberto, Herber, Silvani, Lapagesse, Louise, de Pinto, Camargo, Baldo, Guilherme

“…Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disorder caused by deficient activity of Arylsulphatase B (ARSB). The disease is progressive and…”
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Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion Distonia, doença autoimune e anormalidades da substância branca cerebral em paciente com deleção 18p by Carla Graziadio, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Louise Lapagesse de Camargo Pinto, Liselotte Menke Barea, Giorgio Adriano Paskulin

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Combined chemotherapy and teratogenicity by Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola, Pinto, Louise Lapagesse de Camargo, Rosa, Rafael, Graziadio, Carla

“…BACKGROUND The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and…”
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