Navegação Ciências da Saúde por Autor "Facchin, Ana Carolina Brusius"

Resultados 1-15 de 15

    • Detection of mosaic variants in mothers of MPS II patients by next generation sequencing 

      Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Kubaski, Francyne; Josahkian, Juliana Alves; Giugliani, Roberto (2021) [Artigo de periódico]
      Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, ...

    • Difficulties in the diagnosis of Gaucher disease in a low-income country : a case report from Mozambique 

      Pinto, Félix Pedro; Nassone, Ema; Ismail, Muhammad; Jamisse, Astrilde; Kubaski, Francyne; Facchin, Ana Carolina Brusius; Giugliani, Roberto; Madeira, Luís; Fernandes, Fabíola (2021) [Artigo de periódico]
      Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally. GD is an autosomal recessive condition, which results from mutations ...

    • Experience of the NPC Brazil network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C 

      Kubaski, Francyne; Burlina, Alberto; Polo, Giulia; Pereira, Danilo; Herbst, Zackary M.; Silva, Camilo; Trapp, Franciele Barbosa; Tirelli, Kristiane Michelin; Lopes, Franciele Fátima; Burin, Maira Graeff; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Faqueti, Larissa Gabriela; Iop, Gabrielle Dineck; Poletto, Édina; Giugliani, Roberto (2022) [Artigo de periódico]
      Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid ...

    • Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis Type II 

      Facchin, Ana Carolina Brusius; Kessler, Rejane Gus; Burin, Maira Graeff; Sanseverino, Maria Teresa Vieira; Magalhães, Jose Antonio de Azevedo; Giugliani, Roberto; Leistner-Segal, Sandra (2014) [Artigo de periódico]
      Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained ...

    • Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy 

      Saute, Jonas Alex Morales; Becker, Michele Michelin; Pereira, Maria Luiza Saraiva; Facchin, Ana Carolina Brusius; Mendonça, Rodrigo de Holanda; Zanoteli, Edmar (2020) [Artigo de periódico]
      Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) ...

    • Lysosomal diseases : overview on current diagnosis and treatment 

      Poswar, Fabiano de Oliveira; Vairo, Filippo Pinto e; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Facchin, Ana Carolina Brusius; Kubaski, Francyne; Souza, Carolina Fischinger Moura de; Baldo, Guilherme; Giugliani, Roberto (2019) [Artigo de periódico]
      Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, ...

    • Measurement of sulfatides in the amniotic fluid supernatant : a useful tool in the prenatal diagnosis of metachromatic leukodystrophy 

      Kubaski, Francyne; Herbst, Zackary M.; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Trapp, Franciele Barbosa; Kessler, Rejane Gus; Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Sanseverino, Maria Teresa Vieira; Souza, Carolina Fischinger Moura de; Wilke, Matheus Vernet Machado Bressan; Oliveira, Thiago; Magalhães, Jose Antonio de Azevedo; Giugliani, Roberto (2022) [Artigo de periódico]
      Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood ...

    • Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants 

      Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, M.; Facchin, Ana Carolina Brusius; Chien, Yin-Hsiu; Giugliani, Roberto; Izzo, Emanuela; Kasper David C.; Lin, Hsiang-Yu; Lin, Shuan-Pei; Pollard, Laura Malinda; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim J.; Marrone, Amelia; Tomanin, Rosella (2021) [Artigo de periódico]
      Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ...

    • Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives 

      Kubaski, Francyne; Sousa, Inês; Amorim, Tatiana; Pereira, Danilo; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Burlina, A.; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Tomatsu, Shunji; Giugliani, Roberto (2020) [Artigo de periódico]
      Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming ...

    • Neonatal screening for spinal muscular atrophy : a pilot study in Brazil 

      Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Lemos, Júlia Feltraco; Brasil, Carolina Serpa; Trapp, Franciele Barbosa; Saute, Jonas Alex Morales; Donis, Karina Carvalho; Becker, Michele Michelin; Wiest, Paloma; Coutinho, Vivian de Lima Spode; Castro, Simone Martins de; Ferreira, Juliana de Jesus Guimarães; Silveira, Cynthia; Bittar, Maria Fernanda Ribeiro; Wang, Cristina; Lana, Janaina M.; França Júnior, Marcondes Cavalcante; Giugliani, Roberto (2023) [Artigo de periódico]
      Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal ...

    • Population medical genetics : translating science to the community 

      Giugliani, Roberto; Bender, Fernanda; Couto, Rowena Rubim Silva do; Bochernitsan, Aline Nemetz; Facchin, Ana Carolina Brusius; Burin, Maira Graeff; Amorim, Tatiana; Acosta, Angelina Xavier; Purificação, Antônio Conceição da; Leistner-Segal, Sandra; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Matte, Ursula da Silveira; Riegel, Mariluce; Santos, Augusto César Cardoso dos; Rodrigues, Graziella Ramos; Oliveira, Marcelo Zagonel de; Ribeiro, Alice Tagliani; Heck, Selia Maria; Dresch, Vanusa; Faccini, Lavinia Schuler; Kubaski, Francyne (2019) [Artigo de periódico]
      Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation ...

    • Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency 

      Kubaski, Francyne; Burlina, Alberto; Trapp, Franciele Barbosa; Tirelli, Kristiane Michelin; Lopes, Franciele Fátima; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Poletto, Édina; Giugliani, Roberto (2022) [Artigo de periódico]
      Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin ...

    • Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders 

      Málaga, Diana Elizabeth Rojas; Facchin, Ana Carolina Brusius; Siebert, Marina; Pasqualim, Gabriela; Pereira, Maria Luiza Saraiva; Souza, Carolina Fischinger Moura de; Schwartz, Ida Vanessa Doederlein; Matte, Ursula da Silveira; Giugliani, Roberto (2019) [Artigo de periódico]
      Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a ...

    • Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications in neonatal screening and diagnostic confirmation of lysosomal disorders 

      Netto, Alice Brinckmann Oliveira; Málaga, Diana Elizabeth Rojas; Kubaski, Francyne; Facchin, Ana Carolina Brusius; Giugliani, Roberto (2022) [Artigo de periódico]
      Introduction: Dried blood spot (DBS) samples have been used for diagnostic purposes since its introduction for the neonatal screening of phenylketonuria almost 50 years ago. From that time onwards, the range of its ...

    • Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions 

      Josahkian, Juliana Alves; Trapp, Franciele Barbosa; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Magalhães, Ana Paula Pereira Sholz de; Sebastião, Fernanda Medeiros; Bender, Fernanda; De Mari, Jurema de Fatima; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Málaga, Diana Elizabeth Rojas; Giugliani, Roberto (2021) [Artigo de periódico]
      The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, ...