Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Exocrine pancreatic insufficiency/genetics"'
Autor:
Cresio Alves, Julia Constanca Fernandes, Silvana Sampaio, Raquel de Melo Alves Paiva, Rodrigo Tocantins Calado
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 4, Pp 290-292 (2013)
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic respo
Externí odkaz:
https://doaj.org/article/a50c22e853fa4c338f8a7dc8049e066b
Autor:
Raquel de Melo Alves Paiva, Julia Constança Fernandes, Crésio Alves, Rodrigo T. Calado, Silvana Sampaio
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia
Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 4, Pp 290-292 (2013)
Revista Brasileira de Hematologia e Hemoterapia, Vol 35, Iss 4, Pp 290-292 (2013)
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6adc3054555abffa97fbfadfd743570
http://europepmc.org/articles/PMC3789437
http://europepmc.org/articles/PMC3789437
Autor:
Alves,Cresio, Fernandes,Julia Constanca, Sampaio,Silvana, Paiva,Raquel de Melo Alves, Calado,Rodrigo Tocantins
Publikováno v:
Revista Brasileira de Hematologia e Hemoterapia, Volume: 35, Issue: 4, Pages: 290-292, Published: 2013
Revista Brasileira de Hematologia e Hemoterapia v.35 n.4 2013
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Revista Brasileira de Hematologia e Hemoterapia v.35 n.4 2013
Revista brasileira de hematologia e hemoterapia
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7db8a50dde20e486479cc026cfb2bf2a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000400290&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000400290&lng=en&tlng=en
Autor:
Mary Corey, Gordon G. Forstner, Lap-Chee Tsui, Julian Zielenski, Elizabeth Tullis, N. Ahmed, Peter R. Durie, L. Ellis
Background and aims: We tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48b519a1642a9e0a182f409cf65a17a
http://hdl.handle.net/10722/42535
http://hdl.handle.net/10722/42535
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