Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tiago de Bone Koppe"'
Autor:
Kristiane Michelin Tirelli, Lívia D'Avila Paskulin, Filippo Vairo, Marina Siebert, Tiago de Bone Koppe, Matheus Brunstein Camargo, Divair Doneda, Ida Vanessa Doederlein Schwartz, Liane Esteves Daudt
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 1, Pp 30-34 (2016)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.39 n.1 2016
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 39, Issue: 1, Pages: 30-34, Published: MAR 2016
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.39 n.1 2016
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 39, Issue: 1, Pages: 30-34, Published: MAR 2016
The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Referenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff627594621d567f480c00ff7db1979
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030&lng=en&tlng=en
Autor:
Gabriela Kampf Cury, Fernanda Sperb-Ludwig, Rejane Gus Kessler, Manoel Sarno, Tiago de Bone Koppe, Taciane Alegra, Angelina Xavier Acosta, Maira Burin, Guilherme Baldo, Ida Vanessa Doederlein Schwartz, Roberto Giugliani, Ursula da Silveira Matte
Publikováno v:
Meta Gene
Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c40bf990ff3dafa5b14ab24b0c819959
Autor:
Lívia D'Avila Paskulin, Tiago de Bone Koppe, Matheus Brunstein Camargo, Filippo Vairo, Ida Vanessa Doederlein Schwartz, Liane Esteves Daudt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 38-40 (2015)
β2-Microglobulin is the major prognostic factor in multiple myeloma, a known comorbidity of Gaucher disease. We evaluated herein serum β2-microglobulin levels of 31 type 1 Gaucher patients; for 8/31 patients, pre- and post-treatment comparisons wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234c3a121aa8578af69835d0078a7310
https://doi.org/10.1016/j.ymgmr.2014.11.009
https://doi.org/10.1016/j.ymgmr.2014.11.009
Autor:
Carolina Uribe Cruz, Letícia Maffazzioli Santos, Marina Siebert, Liane Esteves Daudt, Lívia D'Avila Paskulin, Divair Doneda, Filippo Vairo, Ida Vanessa Doederlein Schwartz, Tiago de Bone Koppe
Publikováno v:
Molecular Genetics and Metabolism. 114:S119-S120
CO RR EC TE D P RO OF the juvenile forms by age of onset, rate of disease progression and age of death. There are no approved treatments for gangliosidoses. Biomarkers for evaluating disease phenotype, disease progression, and response to therapies w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e6fe3ea79079c0575db6704aa1606c5
https://doi.org/10.1016/j.ymgme.2014.12.274
https://doi.org/10.1016/j.ymgme.2014.12.274
Autor:
Liane Esteves Daudt, Ida Vanessa Doederlein Schwartz, Tiago de Bone Koppe, Marina Siebert, Suelen Porto Basgalupp
Publikováno v:
Molecular Genetics and Metabolism. 120:S76
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d73f38e44e4ae56d07186f0782a245ae
https://doi.org/10.1016/j.ymgme.2016.11.181
https://doi.org/10.1016/j.ymgme.2016.11.181
Autor:
Divair Doneda, Tiago de Bone Koppe, Filipp Vairo, Cristina Brinckmann Oliveira Netto, Ida Vanessa Doerderlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism. 111:S62-S63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eaea053e6a7d212a9a332001eebd89f
https://doi.org/10.1016/j.ymgme.2013.12.138
https://doi.org/10.1016/j.ymgme.2013.12.138