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Journal Abstract Search

226 related items for PubMed ID: 37725210

  • 1. Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
    Terlizzi V, Padoan R, Leonetti G, Vitullo P, Tosco A, Taccetti G, Fevola C, Ficili F, Pepe A, Poli P, Claut L, Daccò V, Salvatore D.
    Eur J Pediatr; 2023 Dec; 182(12):5275-5283. PubMed ID: 37725210
    [Abstract] [Full Text] [Related]

  • 2. Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.
    Fevola C, Dolce D, Tosco A, Padoan R, Daccò V, Claut L, Schgor T, Sepe A, Timpano S, Fabrizzi B, Piccinini P, Taccetti G, Bonomi P, Terlizzi V.
    Eur J Pediatr; 2024 Feb; 183(2):929-938. PubMed ID: 38054992
    [Abstract] [Full Text] [Related]

  • 3. Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?
    Poli P, De Rose DU, Timpano S, Savoldi G, Padoan R.
    Pediatr Pulmonol; 2019 Oct; 54(10):1578-1583. PubMed ID: 31328366
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  • 5. Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.
    Qiu L, Yang F, He Y, Yuan H, Zhou J.
    Front Med; 2018 Oct; 12(5):550-558. PubMed ID: 29520692
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  • 8. Refining the continuum of CFTR-associated disorders in the era of newborn screening.
    Levy H, Nugent M, Schneck K, Stachiw-Hietpas D, Laxova A, Lakser O, Rock M, Dahmer MK, Biller J, Nasr SZ, Baker M, McColley SA, Simpson P, Farrell PM.
    Clin Genet; 2016 May; 89(5):539-49. PubMed ID: 26671754
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  • 10. Diagnosis of Cystic Fibrosis in Nonscreened Populations.
    Sosnay PR, White TB, Farrell PM, Ren CL, Derichs N, Howenstine MS, Nick JA, De Boeck K.
    J Pediatr; 2017 Feb; 181S():S52-S57.e2. PubMed ID: 28129813
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  • 11. Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
    Sands D, Zybert K, Mierzejewska E, Ołtarzewski M.
    Dev Period Med; 2015 Feb; 19(1):16-24. PubMed ID: 26003066
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  • 12. [Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)].
    Weller F, Wiebicke W, Tümmler B.
    Klin Padiatr; 2000 Feb; 212(1):41-3. PubMed ID: 10719683
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  • 14. Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.
    Jaworska J, Marach-Mocarska A, Sands D.
    BMC Pediatr; 2020 Feb 27; 20(1):90. PubMed ID: 32103733
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  • 15. Hypoelectrolytemia and metabolic alkalosis in infants with cystic fibrosis.
    Beckerman RC, Taussig LM.
    Pediatrics; 1979 Apr 27; 63(4):580-3. PubMed ID: 440868
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  • 16. Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
    Pagin A, Sermet-Gaudelus I, Burgel PR.
    Arch Pediatr; 2020 Feb 27; 27 Suppl 1():eS25-eS29. PubMed ID: 32172933
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  • 19. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.
    Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Giniès JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Férec C.
    J Inherit Metab Dis; 2007 Aug 27; 30(4):613. PubMed ID: 17632692
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  • 20. Acute Recurrent and Chronic Pancreatitis as Initial Manifestations of Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders.
    Baldwin C, Zerofsky M, Sathe M, Troendle DM, Perito ER.
    Pancreas; 2019 Aug 27; 48(7):888-893. PubMed ID: 31268981
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