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: Jurema Fatima de Mari, Fernanda Medeiros Sebastião, Franciele Barbosa Trapp, Maira Graeff Burin, Juliana Alves Josahkian, Ana Paula Pereira Scholz de Magalhães, Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Roberto Giugliani, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Fernanda Bender

المصدر: Genetics and Molecular Biology, Volume: 44, Issue: 1, Article number: e20200138, Published: 27 JAN 2021
Genetics and Molecular Biology v.44 n.1 2021
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 44, Iss 1 (2021)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Lysosomal storage disorders, Consanguinity, Reference laboratory, Biology, QH426-470, 01 natural sciences, metabolic diseases, 03 medical and health sciences, Mucopolissacaridoses, Epidemiology, Lysosomal storage diseases, medicine, Genetics, Prevalência, Epidemiologia, skin and connective tissue diseases, Molecular Biology, Brasil, nutritional and metabolic diseases, mucopolysaccharidoses, 030104 developmental biology, Endogamy, Nascimento vivo, Human and Medical Genetics, epidemiology, Brazil, 010606 plant biology & botany, Demography, Founder effect

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b41b184bd192a2ead93bba9c04579d8Test
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000100103&lng=en&tlng=enTest

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

المصدر: Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 305-311, Published: 03 JUN 2019
Genetics and Molecular Biology, Issue: ahead, Published: 03 JUN 2019
Genetics and Molecular Biology
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
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, Iss 0

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, medicine.medical_specialty, Estudo clínico, clinical investigation, lcsh:QH426-470, Population, MEDLINE, Terapia de reposição de enzimas, Biology, 01 natural sciences, Clinical research, 03 medical and health sciences, Clinical investigation, Doença de depósito lisossomal, Genetics, medicine, education, lysosomal storage diseases, Molecular Biology, education.field_of_study, Brasil, rare diseases, Articles, Clinical trial, Natural history, lcsh:Genetics, 030104 developmental biology, Family medicine, Medical genetics, Doenças raras, 010606 plant biology & botany, Rare disease, enzyme replacement therapy

وصف الملف: text/html; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3196d8cc41ef9883965fae22870e911Test
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200305&lng=en&tlng=enTest