Results 181 to 190 of about 1,245,890 (249)

Improving the Throughput and Specificity for Small-Molecule Analysis During First-Tier Mass Spectrometry-Based Newborn Screening. [PDF]

Metabolites
Isenberg SL, Pickens CA, Lee R, Cuthbert C, Petritis K.   +4 more
europepmc   +1 more source

Improving Severe Combined Immunodeficiency and Cystic Fibrosis Newborn Screening by Replacing Current Tests with First-Tier Targeted Gene Sequencing. [PDF]

Int J Neonatal Screen
Shum BOV, Pretorius C, Henner I, Basar E, Wilgen U, Bennett G, Ungerer JPJ.   +6 more
europepmc   +1 more source

Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia. [PDF]

Int J Neonatal Screen
Zainudin A, Aye TT, Yun CCS, Kumarasamy G, Ali A.   +4 more
europepmc   +1 more source

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry. [PDF]

Int J Neonatal Screen
Yahyaoui R, Quijada-Fraile P, Blasco-Alonso J, Vives I, Gil Ortega D, Couce ML, Sánchez-Pintos P, García Jiménez MC, Meavilla Olivas S, García Volpe C, de Los Santos Mercedes M, García-Cazorla Á, Felipe-Rucián A, Dougherty-de Miguel L, Morais López A, Bergua Martínez A, Andrade Guerrero JD, Stanescu S, Belanger A, Gil-Campos M, Comino Monroy MJ, Bellusci M, Pérez-Mohand P, Barrio-Carreras D, Pérez B, Martín-Hernández E.   +25 more
europepmc   +1 more source

Cost-effectiveness analysis of newborn screening (NBS) for spinal muscular atrophy in Japan

NO TO HATTATSU
Hata, Akira, Uda, Akihito
openaire   +1 more source

Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort. [PDF]

Children (Basel)
Lee CY, Niu DM, Yang CF, Chen YJ.
europepmc   +1 more source

Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.

Public Health Genomics
Smits SG, Duintjer AJ, van Duyvenvoorde HA, Rodenburg W, van der Burg M, Henneman L, Blom M.   +6 more
europepmc   +1 more source

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia. [PDF]

Front Genet
Zhao P, Qiu X, Lin Q, Huang T, Zeng Y, Zhou J, Xu L.   +6 more
europepmc   +1 more source

Cystic Fibrosis Newborn Screening: Cost Trajectory as a Marker to Improve Health Outcomes. [PDF]

Pediatr Pulmonol
Shenoy A, Southern K.
europepmc   +1 more source