Search Results - "Poli, Furio"
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Treatment of low bone density in young people with cystic fibrosis: a multicentre, prospective, open-label observational study of calcium and calcifediol followed by a randomised placebo-controlled trial of alendronate
Published in The lancet respiratory medicine (01-07-2013)“…Summary Background Long-term complications of cystic fibrosis include osteoporosis and fragility fractures, but few data are available about effective…”
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Incidence of Shwachman-Diamond syndrome
Published in Pediatric blood & cancer (15-12-2012)Get full text
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The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman‐Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
Published in British journal of haematology (01-04-2009)“…Summary An investigation of 22 new patients with Shwachman‐Diamond syndrome (SDS) and the follow‐up of 14 previously reported cases showed that (i) clonal…”
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Diagnosis of diabetes. What about cystic fibrosis?
Published in BMJ (Online) (31-12-2009)Get full text
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Is treatment with hydroxychloroquine effective in surfactant protein C deficiency?
Published in Archivos de bronconeumología (English ed.) (01-05-2013)“…We present the case of two twin brothers with surfactant protein C deficiency who were treated with hydroxychloroquine for three years, with apparent success…”
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Acute respiratory failure in a child after talc inhalation
Published in Respiration (01-01-2010)Get more information
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Is Treatment With Hydroxychloroquine Effective in Surfactant Protein C Deficiency?
Published in Archivos de bronconeumología (English ed.) (01-05-2013)“…Abstract We present the case of two twin brothers with surfactant protein C deficiency who were treated with hydroxychloroquine for three years, with apparent…”
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Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies
Published in Genes chromosomes & cancer (01-04-2006)“…An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular genetic techniques, showed that…”
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A Child With Severe Pneumomediastinum and ABCA3 Gene Mutation: A Puzzling Connection
Published in Archivos de bronconeumología (English ed.) (01-04-2012)Get full text
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MBL2 polymorphisms screening in a regional Italian CF Center
Published in Journal of cystic fibrosis (01-09-2005)“…We performed MBL2 genotyping in 47 CF patients—cared of at the regional CF Centre of Trieste—trying to establish a correlation within allelic variants of MBL2…”
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Neumomediastino grave y mutación del gen ABCA3 en un niño: una relación enigmática
Published in Archivos de bronconeumología (01-04-2012)Get full text
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Es eficaz el tratamiento con hidroxicloroquina en el déficit de proteína C surfactante?
Published in Archivos de bronconeumología (01-05-2013)“…Resumen Presentamos el caso de 2 hermanos gemelos con déficit de proteína C surfactante que fueron tratados mediante el empleo de hidroxicloroquina durante 3…”
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A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection
Published in Archivos de bronconeumologia (01-04-2012)Get full text
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Genetic factors in nonspecific bronchial hyperreactivity. An epidemiologic study
Published in American journal of diseases of children (1960) (01-03-1987)“…We tested bronchial reactivity to carbachol in 50 asthmatics, healthy parents of 40 asthmatic children, and 70 healthy subjects with no personal or family…”
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