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Characterization of 223 infants with CFTR-related metabolic syndrome/Cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) identified during the first three years of newborn screening via IRT-DNA-SEQ in New York State.

Autor: Sadeghi H; Columbia University Irving Medical Center, NY USA., Kay DM; Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Langfelder-Schwind E; Lenox Hill Hospital, Northwell Health System NY NY, USA., DeCelie-Germana JK; Cohen Children's Medical Center, Northwell Health System, New Hyde Park, NY, USA., Berdella M; Lenox Hill Hospital, Northwell Health System NY NY, USA., Soultan ZN; Upstate Medical University, Syracuse, NY, USA., Goetz DM; University at Buffalo School of Medicine, Buffalo, NY, USA., Caggana M; Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Fortner CN; Upstate Medical University, Syracuse, NY, USA., Giusti R; NYU Langone Health, NY, USA., Kaslovsky R; Albany Medical College, Albany, NY, USA., Stevens C; Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Tavakoli N; Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Voter K; Strong Memorial Hospital, University of Rochester Medical Center, Rochester, NY, USA., Welter JJ; Division of Pediatric Pulmonology, New York Medical College, Valhalla, NY, USA., Kier C; Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, USA. Electronic address: catherine.kier@stonybrookmedicine.edu.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2024 Nov 11. Date of Electronic Publication: 2024 Nov 11.