المؤلفون: 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

المصدر: Genetics and Molecular Biology. January 2021 44(1)

مصطلحات موضوعية: Lysosomal storage diseases, metabolic diseases, mucopolysaccharidoses, epidemiology, Brazil

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000100103Test

المؤلفون: Vieira, Taiane Alves, Trapp, Franciele Barbosa, Souza, Carolina Fischinger Moura de, Faccini, Lavínia Schuler, Jardim, Laura Bannach, Schwartz, Ida Vanessa Doederlein, Riegel, Mariluce, Vargas, Carmen Regla, Burin, Maira Graeff, Leistner-Segal, Sandra, Ashton-Prolla, Patrícia, Giugliani, Roberto

المصدر: Genetics and Molecular Biology. January 2019 42(1)

مصطلحات موضوعية: Information services, Medical Genetics, diagnostic networks, rare diseases, reference centers

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200155Test

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

الإتاحة: http://hdl.handle.net/10183/268490Test

المؤلفون: Trapp, Franciele Barbosa, Santos, Osmar Rachor Toledo dos, Silva, Cleiton do Amaral

المساهمون: Giugliani, Roberto, Salão de Extensão (23. : 2022 set. 26-30 : UFRGS, Porto Alegre, RS)

مصطلحات موضوعية: Doenças de depósito lisossômico, Redes de diagnóstico, Mucopolissacaridose, Erros inatos do metabolismo, Saúde, Educação, Saúde da Família

وصف الملف: image/jpeg; application/pdf

العلاقة: Salão de Extensão (23. : 2022 : Porto Alegre, RS). Caderno de resumos. Porto Alegre : UFRGS/PROREXT, 2022.; http://hdl.handle.net/10183/264697Test; 48344

الإتاحة: http://hdl.handle.net/10183/264697Test

المؤلفون: 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

مصطلحات موضوعية: Biomarcadores, Doenças de Niemann-Pick, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Acid sphingomyelinase defciency, Lysosphingomyelin, Tandem mass spectrometry, Biomarker, NiemannPick type a/b

وصف الملف: application/pdf

العلاقة: Orphanet journal of rare diseases. [London]. Vol. 17 (2022), 391, 23 p.; http://hdl.handle.net/10183/255488Test; 001160950

الإتاحة: http://hdl.handle.net/10183/255488Test

المؤلفون: 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

مصطلحات موضوعية: Doença de Niemann-Pick tipo C, Biomarcadores, Doenças por armazenamento dos lisossomos, Espectrometria de massas em Tandem, Niemann-Pick disease type C, Lysosphingomyelin-509, Tandem mass spectrometry, Biomarker, Lysosomal storage disorder, Brazil

وصف الملف: application/pdf

العلاقة: International journal of neonatal screening. Basel. Vol. 8, no. 3 (2022), 39, 10 p.; http://hdl.handle.net/10183/245584Test; 001145353

الإتاحة: http://hdl.handle.net/10183/245584Test

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

الإتاحة: http://hdl.handle.net/10183/245625Test

المؤلفون: Civallero, Gabriel Eduardo Santiago, Kubaski, Francyne, Pereira, Danilo, Rübensam, Gabriel, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele Barbosa, Poletto, Édina, Faqueti, Larissa Gabriela, Iop, Gabrielle Dineck, Soares, Juliano, Linden, Vanessa van der, Lourenço, Charles Marques, Giugliani, Roberto

مصطلحات موضوعية: Aromatic l-amino acid decarboxylase, AADC deficiency, DDC gene3-ortho-methyl-dopa, 3-OMD, Dopamine, Tandem mass spectrometry, Diagnóstico, Bioquímica, Plasma, Espectrometria de massas em Tandem, Cromatografia líquida

وصف الملف: application/pdf

العلاقة: Molecular genetics and metabolism reports. New York. Vol. 32 (2022), 100888, 4 p.; http://hdl.handle.net/10183/245608Test; 001145715

الإتاحة: http://hdl.handle.net/10183/245608Test

المؤلفون: Trapp, Franciele Barbosa, Silva, Cleiton do Amaral, Santos, Osmar Rachor Toledo dos

المساهمون: Giugliani, Roberto, Salão de Extensão (22. : 2021 set. 27 - out. 1 : UFRGS, Porto Alegre, RS)

مصطلحات موضوعية: Mucopolissacaridose, Diagnósticos, Doenças Raras, Redes de Diagnósticos, EDUCAÇÃO, SAÚDE, Saúde da Família

وصف الملف: application/pdf; image/jpeg; video/mp4

العلاقة: Salão de Extensão (22. : 2021 : Porto Alegre, RS). Caderno de resumos. Porto Alegre : UFRGS/PROREXT, 2021.; http://hdl.handle.net/10183/251300Test; 46110

الإتاحة: http://hdl.handle.net/10183/251300Test

المؤلفون: Netto, Alice Brinckmann Oliveira, Málaga, Diana Elizabeth Rojas, Kubaski, Francyne, Trapp, Franciele Barbosa, Giugliani, Roberto, Facchin, Ana Carolina Brusius

المساهمون: Hospital de Clínicas de Porto Alegre. Semana Científica. (40. : 2020 : Porto Alegre, RS)

مصطلحات موضوعية: Medicina

وصف الملف: application/pdf

العلاقة: Clinical and biomedical research. Porto Alegre; http://hdl.handle.net/10183/223851Test; 001128025

الإتاحة: http://hdl.handle.net/10183/223851Test