Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Diana Rojas, Málaga"'
Autor:
Dario E. Elias, Maria R. Santos, Hebe Campaña, Fernando A. Poletta, Silvina L. Heisecke, Juan A. Gili, Julia Ratowiecki, Viviana R. Cosentino, Rocio Uranga, Diana Rojas Málaga, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, César Saleme, Mónica Rittler, Hugo B. Krupitzki, Jorge S. Lopez Camelo, Lucas G. Gimenez
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 4 (2024)
Abstract Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to identify gene-environment interactions associated with spontaneous PTB or its predictors. We carried out a retrospective ca
Externí odkaz:
https://doaj.org/article/d437efce88654f47932ed1cf4513a6c6
Autor:
Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, Francyne Kubaski, Ana Carolina Brusius Facchin, Roberto Giugliani
Publikováno v:
Clinical and Biomedical Research, Vol 42, Iss 3 (2023)
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 applications has been extended unti
Externí odkaz:
https://doaj.org/article/f7868fe3f0be4ef386cb0a493ceb5b6a
Autor:
María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, Ricardo Fujita
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract 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 thoroughly characterize mutations in this population. Methods We used the combinati
Externí odkaz:
https://doaj.org/article/eb9689d258c04b929b47d0d45d2093fd
Autor:
Francia DP Huaman-Dianderas, María Luisa Guevara-Fujita, DIana Rojas Málaga, Alejandro Estrada-Cuzcano, Ricardo Fujita
Publikováno v:
Revista Peruana de Medicina Experimental y Salud Pública, Vol 36, Iss 3, Pp 475-80 (2019)
Las distrofias musculares de Duchenne/Becker son enfermedades raras que reciben poca atención en nuestro medio. El objetivo del presente estudio fue implementar la técnica de amplificación múltiple dependiente de ligación por sondas (MLPA) y dem
Externí odkaz:
https://doaj.org/article/df5da08bf5384b3c8a639e04693ed36f
Autor:
Juliana Alves Josahkian, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Ana Paula Pereira Scholz de Magalhães, Fernanda Medeiros Sebastião, Fernanda Bender, Jurema Fátima De Mari, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Diana Rojas Málaga, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 1 (2021)
Abstract 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, and the totality
Externí odkaz:
https://doaj.org/article/c9524199e3bb4d05b8c7a98d09a691e0
Autor:
Andrea Nunes, Joanna Meira, Caio Cunha, Marielza Veiga, Ana Paula Scholz de Magalhães, Diana Rojas Málaga, Roberto Giugliani, Emília Katiane Embiruçu Leão
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient activity of the tr
Externí odkaz:
https://doaj.org/article/ab99b872250046d5a17f9de968b21a2f
Publikováno v:
Anales de la Facultad de Medicina, Vol 78, Iss 4, Pp 409-413 (2018)
Introducción: La enfermedad por Almacenamiento de Ésteres de Colesterol (CESD; Cholesteryl Ester Storage Disease) es una enfermedad de depósito lisosomal, su presentación es bastante variable y su diagnóstico constituye un desafío. Además, exi
Externí odkaz:
https://doaj.org/article/fd814a1f061446b19580fb61b47d8a46
Autor:
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcom
Externí odkaz:
https://doaj.org/article/a2fe1b980788428984281a4eabc80911
Autor:
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Iss 0 (2019)
Abstract 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 high allelic heteroge
Externí odkaz:
https://doaj.org/article/b711a73e6ece42439f78bc2a1557738c
Autor:
Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani
Publikováno v:
Biomolecules, Vol 10, Iss 8, p 1110 (2020)
Precision medicine (PM) is an emerging approach for disease treatment and prevention that accounts for the individual variability in the genes, environment, and lifestyle of each person. Lysosomal diseases (LDs) are a group of genetic metabolic disor
Externí odkaz:
https://doaj.org/article/19c9b42eec814b3d97a94dfea95d75ed