375 Cystic fibrosis, apple peel disease and normal neonatal trypsin

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Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis.

The cystic fibrosis (CF) clinical spectrum has greatly expanded in the past few years, including atypical forms with low sweat chloride concentrations. Two cases are presented which suggest that children detected by neonatal CF screening whose trypsinogen concentrations are still raised by the second month of age could, despite a negative sweat test, be affected by an atypical CF with fully exp...

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Neonatal screening for cystic fibrosis.

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ژورنال

عنوان ژورنال: Journal of Cystic Fibrosis

سال: 2007

ISSN: 1569-1993

DOI: 10.1016/s1569-1993(07)60345-2