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Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease

Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme α-galactosidase A. It can affect almost every organ, including the lungs. Confirmation of lung involvement has depended on invasive bronchial biopsy specimens or brushings to confirm the presence of typi...

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Autori principali: Kelly, M., Leigh, R., McKenzie, R., Kamada, D., Ramsdale, E, Hargreave, F.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2000
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1745834/
https://ncbi.nlm.nih.gov/pubmed/10899253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thorax.55.8.720
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