Impact of pancreatitis-associated protein on newborn screening outcomes and detection of cftr-related metabolic syndrome (crms)/cystic fibrosis screen positive, inconclusive diagnosis (cfspid): a monocentric prospective pilot experience

HIGHLIGHTS

• who: Chiara Bianchimani and collaborators from the Centrone, C have published the research: Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience, in the Journal: (JOURNAL) of 31/05/2022
• what: The aim of this paper was to evaluate the impact of PAP as the second tier of CF NBS protocol, before the CFTR genetic analysis, on NBS outcomes and on detection of CRMS/CFSPID in an Italian region with a high prevalence of CRMS . . .
  

   

  

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