Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due...
Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency
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Author / Creator
Frémond, Marie-Louise , Hadchouel, Alice , Schweitzer, Cyril , Berteloot, Laureline , Bruneau, Julie , Bonnet, Cécile , Cros, Guilhem , Briand, Coralie , Magnani, Alessandra , Pochon, Cécile , Delacourt, Christophe , Cavazzana, Marina , Moshous, Despina , Fischer, Alain , Blanche, Stéphane , Blic, Jacques De and Neven, Bénédicte
Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
CS and Cécile Bonnet (CeB): These abnormalities led to a diagnosis of pulmonary alveolar proteinosis (PAP) at the age of 2.6 years, which was confirmed by genetic testing; complex chromosome abnormalities were detected, with (1) deletion of CSF2RA and CRLF2 on the X chromosome inherited from the mother, and (2) a de novo rearrangement of the patern...
Alternative Titles
Full title
Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency
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Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02979634v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02979634v1
Other Identifiers
ISSN
0040-6376
E-ISSN
1468-3296
DOI
10.1136/thoraxjnl-2017-211076