Results 11 to 20 of about 2,182,083 (430)

Neonatal screening for cystic fibrosis. [PDF]

Archives of Disease in Childhood, 1988
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.
Bowling, F., Cleghorn, G.J., Chester, A., Curran, J., Griffin, B., Prado, J., Francis, P., Shepherd, R.   +7 more
openaire   +6 more sources

Reliability of Neonatal Screening Results [PDF]

International Journal of Neonatal Screening, 2018
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Maria Knapkova, Kate Hall, Gerard Loeber
openaire   +5 more sources

Neonatal Screening for the Hemochromatosis Defect [PDF]

Blood, 1997
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.
Cullen, L. M., Summerville, L., Glassick, T. V., Crawford, D. H. G., Powell, L. W., Jazwinska, E. C.   +5 more
openaire   +4 more sources

Neonatal screening. [PDF]

Journal of Clinical Pathology, 1993
R. J. Pollitt
openaire   +4 more sources

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening. [PDF]

Eur J Pediatr, 2022
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.
Pane M, Donati MA, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Ricci M, Palermo C, Berti B, Leone D, Ticci C, Sacchini M, Cerboneschi M, Capasso A, Cicala G, Pera MC, Bravetti C, Abiusi E, Vaisfeld A, Vento G, Tiziano FD, Mercuri E.   +21 more
europepmc   +2 more sources

Neonatal screening [PDF]

Journal of Tropical Pediatrics, 2014
D. Simkiss
openaire   +3 more sources

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

International Journal of Neonatal Screening, 2021
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, Dimitris Platis, R. Zetterström, S. Almashanu, F. Boemer, J. Bonham, P. Borde, Ian Brincat, D. Cheillan, E. Dekkers, Dobry Dimitrov, R. Fingerhut, L. Franzson, U. Grošelj, D. Hougaard, M. Knapkova, M. Kocova, V. Kotori, V. Kožich, A. Kremezna, Riikka Kurkijärvi, G. la Marca, R. Mikelsaar, T. Milenković, V. Mitkin, F. Moldovanu, U. Ceglarek, L. O’Grady, M. Ołtarzewski, R. Pettersen, D. Ramadža, Damilya Salimbayeva, M. Samardzic, Markhabo Shamsiddinova, J. Songailienė, I. Szatmári, N. Tabatadze, B. Tezel, A. Toromanović, Irina Tovmasyan, N. Usurelu, P. Vēvere, L. Vilarinho, M. Vogazianos, R. Yahyaoui, M. Zeyda, P. Schielen   +46 more
semanticscholar   +1 more source

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2021

International Journal of Neonatal Screening, 2022
Rigorous peer-reviews are the basis of high-quality academic publishing [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Neonatal Screening for Congenital Metabolic and Endocrine Disorders.

Deutsches Ärzteblatt International, 2021
BACKGROUND The purpose of neonatal screening is the early detection of congenital metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long-term adverse sequelae.
A. Lüders, O. Blankenstein, I. Brockow, R. Ensenauer, M. Lindner, A. Schulze, U. Nennstiel   +6 more
semanticscholar   +1 more source

Acknowledgment to the Reviewers of International Journal of Neonatal Screening in 2022

International Journal of Neonatal Screening, 2023
High-quality academic publishing is built on rigorous peer review [...]
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source