Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Maria Teresa V Sanseverino"'
Autor:
Maria Amélia A Campos, Maria Lúcia R Oppermann, Maria Teresa V Sanseverino, Giulia L Guerra, Vânia N Hirakata, Angela J Reichelt
Publikováno v:
Diabetology & Metabolic Syndrome, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Objective To describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes. Methods In this retrospective cohort study between 2005 and 2021, we included all pregnant participant
Externí odkaz:
https://doaj.org/article/036e102949c741269f1a50ba017404b4
Autor:
Carmen R Vargas, Marion Deon, Angela Sitta, Daniella M Coelho, Patricia D Silva, Larissa Murussi, Laura V Fleith, Carolina Crespo, Moacir Wajner, Maria Teresa V Sanseverino
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 56 (2020)
ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometr
Externí odkaz:
https://doaj.org/article/c9665c6483064fb6833ac07cef77cea6
Autor:
Silvani Herber, André A. Silva, Maria Teresa V. Sanseverino, Luciana Friedrich, Tani M.S. Ranieri, Catia Favreto, Lucas R. Fraga, Anna P. Terra, Ida V.D. Schwartz, Lavínia Schuler‐Faccini
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 95, Iss 5, Pp 600-606 (2019)
Objective: The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infectio
Externí odkaz:
https://doaj.org/article/37d7a885ea8f4ba1a6b53628eb4e0466
Autor:
Eduardo P. Mattos, Maria Teresa V. Sanseverino, José Antônio A. Magalhães, Júlio César L. Leite, Temis Maria Félix, Luiz Alberto Todeschini, Denise P. Cavalcanti, Lavinia Schüler-Faccini
Publikováno v:
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 14-20 (2015)
Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face,
Externí odkaz:
https://doaj.org/article/b450f200aa9e410dafb8b7b048bff79e
Autor:
Larissa Faqueti, Gabrielle Iop, Layzon Antonio Lemos da Silva, Francyne Kubaski, Henrique B.L. Borges, Alice Brinckmann Oliveira Netto, Ana C. Brusius-Facchin, Sandra Leistner-Segal, Rejane Gus, Maria Teresa V. Sanseverino, Kristiane Michelin-Tirelli, Fernanda Bender Pasetto, Fernanda Medeiros Sebastiao, Thiago Oliveira Silva, José Antonio Azevedo Magalhães, Carolina Fischinger Moura de Souza, Salvatore Recupero, Valeria Calbi, Francesca Fumagalli, Alessandro Aiuti, Roberto Giugliani
Publikováno v:
Molecular Genetics and Metabolism. 138:107094
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ea8efcfa626873bcb1a6a971d1ef529
https://doi.org/10.1016/j.ymgme.2022.107094
https://doi.org/10.1016/j.ymgme.2022.107094
Autor:
Rejane G. Kessler, Maria Teresa V. Sanseverino, Sandra Leistner-Segal, José A.A. Magalhães, Roberto Giugliani
Publikováno v:
Genetics and Molecular Biology, Vol 31, Iss 4, Pp 829-833 (2008)
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between
Externí odkaz:
https://doaj.org/article/854783f92e7f47cf9daa2dfb38c4aeab
Publikováno v:
Jornal de Pediatria, Vol 84, Iss 4, Pp S76-S79 (2008)
OBJETIVO: Ainda que as características clássicas da síndrome fetal alcoólica tenham sido descritas desde 1968, a pesquisa sobre a teratogênese do álcool apenas recentemente demonstrou que o cérebro é o órgão do corpo mais vulnerável aos ef
Externí odkaz:
https://doaj.org/article/63e1246fe1e84fed96afc9e85f4efd27
Autor:
Mariela Larrandaburu, Fernanda L.S Vianna, Karina Griot, Cecilia Queijo, Gabriela Monzón, Cecilia Ugarte, Luis Nacul, Lavinia Schuler-Faccini, Maria Teresa V. Sanseverino
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and
Externí odkaz:
https://doaj.org/article/aa17046d14874869958d08fbc45e473c