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1دورية أكاديمية
المؤلفون: 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
مصطلحات موضوعية: Atrofia muscular espinal, Triagem neonatal, Reação em cadeia da polimerase em tempo real, Spinal muscular strophy, Neonatal screening, Real-time PCR, MLPA, Brazil
وصف الملف: application/pdf
العلاقة: Genetics and molecular biology. Ribeirão Preto (SP). Vol. 46, n. 3, Supl. 1 (2023), e20230126, 8 p.; http://hdl.handle.net/10183/268490Test; 001193277
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2دورية أكاديمية
المؤلفون: 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
مصطلحات موضوعية: Arylsulfatase A, Metachromatic leukodystrophy, Prenatal analysis, Sulfatides, Tandem mass spectrometry, Leucodistrofia metacromática, Triagem neonatal, Sulfoglicoesfingolipídeos, Líquido amniótico, Espectrometria de massas em Tandem
وصف الملف: application/pdf
العلاقة: JIMD reports. Heidelberg. Vol. 63 (2022), p. 162-167.; http://hdl.handle.net/10183/245625Test; 001145431