Results 111 to 120 of about 1,268 (176)

23 Differences in blood immunoreactive trypsinogen concentrations and genotype in hypertrypsinaemic neonates

Journal of Cystic Fibrosis, 2011
Seia, M., Paracchini, V., Raimondi, S., Colombo, C., Capasso, P., Costantino, L., Porcaro, L., Mariani, T., Manzoni, E., Sangiovanni, M., Corbetta, C.   +10 more
openaire   +1 more source

Pharmacokinetic assessment of elexacaftor/tezacaftor/ivacaftor and their metabolites in maternal blood, cord blood, the neonate, and breastmilk of a cystic fibrosis carrier mother/affected fetus dyad. [PDF]

J Cyst Fibros
Sinkey RG, Garcia B, Fowler CM, Krick S, Ryan KJ, Acosta EP, Guimbellot JS.   +6 more
europepmc   +1 more source

Reply to Martin and Grasemann: Is There a Role for Lumacaftor/Ivacaftor in Young Children with Cystic Fibrosis? [PDF]

Ann Am Thorac Soc
Stahl M, Röhmel J, Wielpütz MO, Mall MA.   +3 more
europepmc   +1 more source

Cystic Fibrosis With No Known Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation and a Negative Newborn Screening Test: A Case Report. [PDF]

Cureus
Subbanna R, Martin K.
europepmc   +1 more source

False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13. [PDF]

Journal of Medical Genetics, 1991
F J, Priest, N C, Nevin
openaire   +2 more sources

Exposure to CFTR Modulators During Pregnancy in Cystic Fibrosis: Four Cases to Highlight Neonatal Diagnostic Challenges and Outcomes. [PDF]

Int J Neonatal Screen
Domenach L, Pagin A, Cisterne C, Audrezet MP, Couderc L, Monteil L, Roditis L, Murris M, Macey J, Fayon M, Bui S, Reboul MP.   +11 more
europepmc   +1 more source

Pancreatic involvement in <i>EPG5</i>-related disorders. [PDF]

Mol Genet Metab Rep
Famili DT, Elghazali G, Argili E, Saneto RP, Harris M, Gerasimenko O, Gerasimenko J, Fanto M, Dafsari HS, Jungbluth H.   +9 more
europepmc   +1 more source

Neonatology Providers Need Education About Cystic Fibrosis Newborn Screening Algorithms. [PDF]

Int J Neonatal Screen
Seshadri N, Christ L, Munson D, Borowiec A, Ren CL, Shenoy A.   +5 more
europepmc   +1 more source

Pregnancy in People With Cystic Fibrosis Treated With Highly Effective Modulator Therapy. [PDF]

Obstet Gynecol
Goralski JL, Talati AN, Hardisty EE, Vora NL.   +3 more
europepmc   +1 more source

Case Reflection of a Child With p.Phe312del/p.Phe508del Genotype Undetected on Newborn Screening and With No Clinical Features of Cystic Fibrosis Despite a Sweat Chloride Value in the Diagnostic Range. [PDF]

Cureus
Clarke J, Gadelsayed N, Elsammak M, Brady J, Elnazir B.   +4 more
europepmc   +1 more source