TY - JOUR
T1 - Chronic Lung Disease and Cystic Fibrosis Phenotype in Prolidase Deficiency
T2 - A Newly Recognized Association
AU - Luder, A. S.
AU - Mandel, H.
AU - Khayat, M.
AU - Gurevich, I.
AU - Frankel, P.
AU - Rivlin, J.
AU - Falik-Zaccai, T. C.
PY - 2007/6
Y1 - 2007/6
N2 - Six families with prolidase deficiency (PD) and chronic lung disease are reported, a previously unrecognized association. In one family with a classic cystic fibrosis (CF) phenotype, no evidence for CF Transmembrane Conductance Regulator (CFTR)-related mutations could be found. Chronic lung disease and CFTR-mutation negative CF may be associated with PD.
AB - Six families with prolidase deficiency (PD) and chronic lung disease are reported, a previously unrecognized association. In one family with a classic cystic fibrosis (CF) phenotype, no evidence for CF Transmembrane Conductance Regulator (CFTR)-related mutations could be found. Chronic lung disease and CFTR-mutation negative CF may be associated with PD.
UR - http://www.scopus.com/inward/record.url?scp=34249018850&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2007.03.025
DO - 10.1016/j.jpeds.2007.03.025
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AN - SCOPUS:34249018850
SN - 0022-3476
VL - 150
SP - 656-658.e1
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -