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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.

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Title: 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.
Authors: 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.
Corporate Authors: New York State Cystic Fibrosis Newborn Screening Consortium
Source: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2025 Mar; Vol. 24 (2), pp. 404-411. Date of Electronic Publication: 2024 Nov 12.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5010 (Electronic) Linking ISSN: 15691993 NLM ISO Abbreviation: J Cyst Fibros Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: 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.
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  Data: <searchLink fieldCode="JN" term="%22101128966%22">Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society</searchLink> [J Cyst Fibros] 2025 Mar; Vol. 24 (2), pp. 404-411. <i>Date of Electronic Publication: </i>2024 Nov 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101128966 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-5010 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215691993%22">15691993 </searchLink><i>NLM ISO Abbreviation: </i>J Cyst Fibros <i>Subsets: </i>MEDLINE
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