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Neonatal hearing screening [PDF]
Severe congenital hearing impairment is an important handicap affecting 0.1% of live-born infants and 1%-2% of graduates of Neonatal Intensive Care Units. The prognosis for intellectual, emotional, language and speech development in the hearing-impaired child is improved when the diagnosis is made early and intervention is begun before the age of 6 ...
Anne Marie Oudesluys‐Murphy+3 more
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Neonatal screening for cystic fibrosis. [PDF]
Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.
Francis Bowling+7 more
openalex +6 more sources
Reliability of Neonatal Screening Results [PDF]
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Maria Knapkova, Kate Hall, Gerard Loeber
openaire +5 more sources
Neonatal Screening for the Hemochromatosis Defect [PDF]
To the Editor : Hereditary hemochromatosis (HC) is an autosomal recessive disorder of iron metabolism that is characterized by inappropriate iron absorption and storage of excess iron in the parenchymal cells of major organs, primarily the liver, pancreas, heart, pituitary, and joints.
Lara M. Cullen+5 more
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Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots [PDF]
The International Society for Neonatal Screening (ISNS) has supported the standardization of the measurement of key biochemical markers for the neonatal screening of diseases: thyroid-stimulating hormone (TSH) for congenital hypothyroidism, phenylalanine
Peter C. J. I. Schielen+3 more
doaj +2 more sources
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass ...
J. Loeber+46 more
semanticscholar +1 more source
Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2021
Rigorous peer-reviews are the basis of high-quality academic publishing [...]
International Journal of Neonatal Screening Editorial Office
doaj +1 more source
The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs.
M. Pane+21 more
semanticscholar +1 more source