Results 171 to 180 of about 1,245,890 (249)

The Effect of A Likely Overemphasis on Ficiency-Related Test Attributes on Acmg Recommendations and Access To Newborn Screening (Nbs) [PDF]

Value in Health, 2014
openaire   +2 more sources

Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes. [PDF]

Int J Neonatal Screen
Gaviglio A, Bonhomme N, Burton B, Ellinwood NM, Muenzer J, Stephens K, Pathak R, Schaeffer-Koziol C.   +7 more
europepmc   +1 more source

Newborn Screening for Cystic Fibrosis and Its Incidence at a Tertiary Care Center in Saudi Arabia: A Retrospective Study. [PDF]

Cureus
Kelabi HM, Alharbi FJ, Alharbi A, Alshamrani AS, Alqwaiee M, Alenazi AM, Alsaban AS, Baqias KA.   +7 more
europepmc   +1 more source

Ethical, Legal, and Social Implications of Newborn Screening in Africa: A Scoping Review. [PDF]

Int J Neonatal Screen
Samuel VO, Adejare AA, Useh U.
europepmc   +1 more source

Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine. [PDF]

Biochem Med (Zagreb)
Rogić D, Šimičević L, Žigman T, Bambir I, Vukić Dugac A, Tješić-Drinković D, Fumić K, Lehman I, Rako I, Popović M, Ganoci L, Živković M, Mihaljević-Peleš A.   +12 more
europepmc   +1 more source

P045 Results from a newborn screening (NBS) pilot study for cystic fibrosis in the Republic of Macedonia

Journal of Cystic Fibrosis, 2019
S. Fustik, V. Anastasovska, D. Plaseska-Karanfilska, L. Spirevska, A. Stamatova, M. Pesevska, M. Terzikj   +6 more
openaire   +1 more source

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD). [PDF]

JIMD Rep
Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM.   +9 more
europepmc   +1 more source

Towards a consensus on the early management of infants identified with cystic fibrosis following newborn screening (NBS)

Journal of Cystic Fibrosis, 2009
Sermet-Gaudelus, I., Mayell, S., Southern, K.W.   +2 more
openaire   +1 more source

Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants. [PDF]

Nutrients
Scaglione M, Calevo MG, Pessano S, Perri FN, Mariani S, Massirio P, Cassanello M, Perrone Donnorso M, Sondo E, Malova M, Schiaffino MC, Maghnie M, Ramenghi LA.   +12 more
europepmc   +1 more source

Homozygosity for a Clinically Significant <i>GALC</i> Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling. [PDF]

Int J Neonatal Screen
Schecter DR, Donnelly C, White A, Raynes H, Heller G, Rajan D, Saavedra-Matiz CA, Orsini J, Boelens JJ, Matern D, Ganesh J.   +10 more
europepmc   +1 more source