Results 281 to 290 of about 225,004 (293)

Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study. [PDF]

Int J Neonatal Screen
Martens RC, Broulikova HM, Engelen M, Kemp S, Boelen A, de Jonge R, Bosmans JE, Heijboer AC.   +7 more
europepmc   +1 more source

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency. [PDF]

Int J Neonatal Screen
Bettiol A, Damiano R, Mytsyk N, Samonenko N, Cericola G, Speckmann C, Olkhovich N, Guerrini R, la Marca G.   +8 more
europepmc   +1 more source

Correction to "Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases". [PDF]

J Inherit Metab Dis
europepmc   +1 more source

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening. [PDF]

Orphanet J Rare Dis
Wang P, Li H, Yang X, Hu L, Chen Y, Cen Z, Ge P, He Q, Wu B, Huang X.   +9 more
europepmc   +1 more source

Economic evaluation of the role of telemedicine in paediatric cardiology: Final Report [PDF]

, 2005
Dowie, R, Mistry, H, Weatherburn, G, Young, T   +3 more
core  

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China. [PDF]

Front Genet
Zhang H, Tian H, Dai W, Zhang L, Guo G, Ding G.   +5 more
europepmc   +1 more source

Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022-2023). [PDF]

Int J Neonatal Screen
Vardosanidze N, Kavlashvili N, Margvelashvili L, Kvlividze O, Diakonidze M, Iordanishvili S, Agladze D.   +6 more
europepmc   +1 more source

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment. [PDF]

Int J Neonatal Screen
Nardecchia F, De Giorgi A, Santagata S, Giovanniello T, Tolve M, Angeloni A, Leuzzi V, Pisani F, Carducci C.   +8 more
europepmc   +1 more source