المؤلفون: Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar

المصدر: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)

مصطلحات موضوعية: Sanfilippo syndrome, Mucopolysaccharidosis IIIB, MPS Brazil Network, lysosomal storage diseases, heparan sulfate, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100102&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646Test

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: Giugliani, Luciana, Vanzella, Claudia, Zambrano, Marina Bauer, Donis, Karina Carvalho, Wallau, Thaís Klassmann Wendland, Costa, Fernando Machado da, Giugliani, Roberto

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

مصطلحات موضوعية: Clinical research, clinical investigation, rare diseases, lysosomal storage diseases, enzyme replacement therapy

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200305Test

المؤلفون: Poswar, Fabiano de Oliveira, Vairo, Filippo, Burin, Maira, Michelin-Tirelli, Kristiane, Brusius-Facchin, Ana Carolina, Kubaski, Francyne, Souza, Carolina Fischinger Moura de, Baldo, Guilherme, Giugliani, Roberto

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

مصطلحات موضوعية: Lysosomal storage diseases, neonatal screening, hematopoietic stem cell transplantation, enzyme replacement therapy, gene therapy

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200165Test

المؤلفون: 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

المصدر: Genetics and Molecular Biology, Vol 44, Iss 1 (2021)

مصطلحات موضوعية: Lysosomal storage diseases, metabolic diseases, mucopolysaccharidoses, epidemiology, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000100103&tlng=enTest; http://www.scielo.br/pdf/gmb/v44n1/1415-4757-GMB-44-1-e20200138.pdfTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/c9524199e3bb4d05b8c7a98d09a691e0Test

المؤلفون: Giugliani, Roberto, Federhen, Andressa, Michelin-Tirelli, Kristiane, Riegel, Mariluce, Burin, Maira

المصدر: Genetics and Molecular Biology. March 2017 40(1)

مصطلحات موضوعية: Lysosomal storage diseases, epidemiology, reference center, biochemical genetics, Brazil

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100031Test

المؤلفون: Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin

المصدر: Genetics and Molecular Biology, Vol 40, Iss 1, Pp 31-39 (2017)

مصطلحات موضوعية: Lysosomal storage diseases, epidemiology, reference center, biochemical genetics, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100031&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/7126ad6f4f3a4e189aaf98e00dbfe4a2Test

المؤلفون: Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani

المصدر: Genetics and Molecular Biology, Iss 0 (2019)

مصطلحات موضوعية: Lysosomal storage diseases, neonatal screening, hematopoietic stem cell transplantation, enzyme replacement therapy, gene therapy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019403&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/e7d7cf60f08f45fda02effa15361c07dTest

المؤلفون: Carolina Fischinger Moura de Souza, Filippo Vairo, Fabiano de Oliveira Poswar, Roberto Giugliani, Guilherme Baldo, Ana Carolina Brusius-Facchin, Maira Burin, Kristiane Michelin-Tirelli, Francyne Kubaski

المصدر: Genetics and Molecular Biology, Iss 0 (2019)
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 165-177, Published: 25 APR 2019
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Tratamento, Screening test, lcsh:QH426-470, Genetic enhancement, medicine.medical_treatment, Terapia de reposição de enzimas, Hematopoietic stem cell transplantation, Biology, Bioinformatics, 01 natural sciences, 03 medical and health sciences, Doença de depósito lisossomal, Lysosomal storage diseases, Genetics, medicine, neonatal screening, Molecular Biology, Heterogeneous group, Diagnóstico, Articles, Enzyme replacement therapy, Transplante de células-tronco hematopoéticas, Triagem neonatal, gene therapy, lcsh:Genetics, 030104 developmental biology, hematopoietic stem cell transplantation, Genetic diagnosis, 010606 plant biology & botany, enzyme replacement therapy

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2beef8afaab56401802c8b98d5751e83Test
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005019403&lng=en&tlng=enTest

المؤلفون: Maira Graeff Burin, Kristiane Michelin-Tirelli, Roberto Giugliani, Mariluce Riegel, Andressa Federhen

المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology v.40 n.1 2017
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Volume: 40, Issue: 1, Pages: 31-39, Published: 16 MAR 2017
Genetics and Molecular Biology, Vol 40, Iss 1, Pp 31-39 (2017)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Screening test, Reference laboratory, Biology, reference center, Doenças por armazenamento dos lisossomos, Frequency, 03 medical and health sciences, Lysosomal storage diseases, Genetics, medicine, Epidemiologia, Molecular Biology, Specific enzyme, Heterogeneous group, Brasil, Serviços de informação, lcsh:Genetics, Biomarcadores, 030104 developmental biology, Special Series of Articles - 60 Years of The Brazilian Society of Genetics, biochemical genetics, epidemiology, Brazil

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::020fb13a0fe2a5750463a8e6a1942f35Test
https://pubmed.ncbi.nlm.nih.gov/28304074Test