Search Results - "Malaga, Diana Rojas"

Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles? by Rojas Malaga, Diana, Leistner-Segal, Sandra, Brusius-Facchin, Ana Carolina

“…Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at…”
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Diagnosis of Mucopolysaccharidoses by Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto

“…The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans…”
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Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart by Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, Sandra

“…Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the…”
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Precision Medicine for Lysosomal Disorders by Pinto E Vairo, Filippo, Rojas Málaga, Diana, Kubaski, Francyne, Fischinger Moura de Souza, Carolina, de Oliveira Poswar, Fabiano, Baldo, Guilherme, Giugliani, Roberto

“…Precision medicine (PM) is an emerging approach for disease treatment and prevention that accounts for the individual variability in the genes, environment,…”
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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders by Málaga, Diana Rojas, Brusius-Facchin, Ana Carolina, Siebert, Marina, Pasqualim, Gabriela, Saraiva-Pereira, Maria Luiza, Souza, Carolina F M de, Schwartz, Ida V D, Matte, Ursula, Giugliani, Roberto

“…Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in…”
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Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population by Elias, Dario E., Santos, Maria R., Campaña, Hebe, Poletta, Fernando A., Heisecke, Silvina L., Gili, Juan A., Ratowiecki, Julia, Cosentino, Viviana, Uranga, Rocio, Málaga, Diana Rojas, Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Saleme, César, Rittler, Mónica, Krupitzki, Hugo B., Camelo, Jorge S. Lopez, Gimenez, Lucas G.

“…Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify associations of spontaneous PTB…”
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Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions by Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, Magalhães, Ana Paula Pereira Scholz de, Sebastião, Fernanda Medeiros, Bender, Fernanda, Mari, Jurema Fátima De, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Málaga, Diana Rojas, Giugliani, Roberto

“…The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth…”
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Gene-environment interactions and preterm birth predictors: A Bayesian network approach by Elias, Dario E, Santos, Maria R, Campaña, Hebe, Poletta, Fernando A, Heisecke, Silvina L, Gili, Juan A, Ratowiecki, Julia, Cosentino, Viviana R, Uranga, Rocio, Málaga, Diana Rojas, Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Saleme, César, Rittler, Mónica, Krupitzki, Hugo B, Camelo, Jorge S Lopez, Gimenez, Lucas G

“…Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions…”
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MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB by Guevara‐Fujita, María Luisa, Huaman‐Dianderas, Francia, Obispo, Daisy, Sánchez, Rodrigo, Barrenechea, Victor, Rojas‐Málaga, Diana, Estrada‐Cuzcano, Alejandro, Trubnykova, Milana, Cornejo‐Olivas, Mario, Marca, Victoria, Gallardo, Bertha, Dueñas‐Roque, Milagros, Protzel, Ana, Castañeda, Carlos, Abarca, Hugo, Celis, Luis, La Serna‐Infantes, Jorge, Fujita, Ricardo

“…Background We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to…”
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Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases by Málaga, Diana Rojas, Brusius-Facchin, Ana C, Michelin-Tirelli, Kristiane, Félix, Têmis M, Schulte, Jaqueline, Pereira, Jamile, Neto, Eurico Camargo, Filho, Claudio Sampaio, Giugliani, Roberto

“…When a low activity of acid α-glucosidase (GAA) is found, particularly in newborn screening programs, to differentiate α- glucosidase pseudo deficiency from…”
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Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil by Bravo, Heydy, Neto, Eurico Camargo, Schulte, Jaqueline, Pereira, Jamile, Filho, Claudio Sampaio, Bittencourt, Fernanda, Sebastião, Fernanda, Bender, Fernanda, de Magalhães, Ana Paula Scholz, Guidobono, Régis, Trapp, Franciele Barbosa, Michelin-Tirelli, Kristiane, Souza, Carolina F.M., Rojas Málaga, Diana, Pasqualim, Gabriela, Brusius-Facchin, Ana Carolina, Giugliani, Roberto

“…Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade…”
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Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas by Huaman-Dianderas, Francia DP, Guevara-Fujita, María Luisa, Rojas Málaga, DIana, Estrada-Cuzcano, Alejandro, Fujita, Ricardo

“…RESUMEN Las distrofias musculares de Duchenne/Becker son enfermedades raras que reciben poca atención en nuestro medio. El objetivo del presente estudio fue…”
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Impact of genetic background as a risk factor for atherosclerotic cardiovascular disease: A protocol for a nationwide genetic case-control (CV-GENES) study in Brazil by Alves de Oliveira, Junior, Haliton, de Menezes Neves, Precil Diego Miranda, de Figueiredo Oliveira, Gustavo Bernardes, Moreira, Frederico Rafael, Pintão, Maria Carolina Tostes, Rocha, Viviane Zorzanelli, de Souza Rocha, Cristiane, Katz, Viviane Nakano, Ferreira, Elisa Napolitano, Rojas-Málaga, Diana, Viana, Celso Ferraz, da Silva, Fabiula Fagundes, Vidotti, Juliete Jorge, Felicio, Natalia Mariana, de Araújo Vitor, Leticia, Cesar, Karina Gimenez, Araújo da Silva, Camila, de Oliveira Alves, Lucas Bassolli, Avezum, Álvaro

“…Atherosclerotic Cardiovascular Disease (ASCVD) represents the leading cause of death worldwide, and individual screening should be based on behavioral,…”
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A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) by Nunes, Andrea, Meira, Joanna, Cunha, Caio, Veiga, Marielza, Magalhães, Ana Paula Scholz de, Málaga, Diana Rojas, Giugliani, Roberto, Leão, Emília Katiane Embiruçu

“…Abstract Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the…”
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Detección de la mutación E8SJM en el gen LIPA, por PCR en tiempo real, para la investigación de la enfermedad por almacenamiento de ésteres de colesterol by Rojas Málaga, Diana, Matte, Ursula, Schmidt Cerski, Carlos Thadeu, Giugliani, Roberto

“…Introducción: La enfermedad por Almacenamiento de Ésteres de Colesterol (CESD; Cholesteryl Ester Storage Disease) es una enfermedad de depósito lisosomal, su…”
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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders by Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, Francyne Kubaski, Ana Carolina Brusius Facchin, Roberto Giugliani

“…Introduction: Dried blood spot (DBS) samples have been used for diagnostic purposes since its introduction for the neonatal screening of phenylketonuria almost…”
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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders by Netto, Alice Brinckmann Oliveira, Málaga, Diana Rojas, Kubaski, Francyne, Facchin, Ana Carolina Brusius, Giugliani, Roberto

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Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification by Huamán-Dianderas, Francia Dp, Guevara-Fujita, María Luisa, Málaga, Diana Rojas, Estrada-Cuzcano, Alejandro, Fujita, Ricardo

“…Duchenne and Becker muscular dystrophies are rare diseases that receive limited attention in our field. The objective of this study was to implement the…”
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Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil by Bravo-Villalta, Heydy V, Neto, Eurico C, Schulte, Jaqueline, Pereira, Jamile, Sampaio-Filho, Cláudio, Burin, Maira G, Bitencourt, Fernanda H, Sebastião, Fernanda M, Guidobono, Régis R, Brusius-Facchin, Ana C, Pasqualim, Gabriela, Rojas-Málaga, Diana E, Matte, Ursula S, Giugliani, Roberto

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Research Article Pseudo deficiency of acid α-glucosidase: a challenge in the newborn screening for Pompe diseases by Málaga, Diana Rojas, Facchin, Ana C Brusius, Tirelli, Kristiane Michelin, Félix, Têmis M, Schulte, Jaqueline, Pereira, Jamile, Neto, Eurico Camargo, Filho, Claudio Sampaio, Giugliani, Roberto

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