Results 161 to 170 of about 1,360,274 (268)

Lymphocyte reference intervals in the era of newborn screening (NBS).

Journal of Allergy and Clinical Immunology, 2019
T. Fleisher, S. Rosenzweig
semanticscholar   +1 more source

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide

Molecular Genetics and Metabolism
Newborn screening (NBS) for metachromatic leukodystrophy (MLD) is based on first-tier measurement of sulfatides in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A in the same DBS.
S. Bekri, Annette Bley, Heather A Brown, C. Chanson, H. Church, Michael H. Gelb, Xin-Ying Hong, N. Janzen, D. Kasper, T. Mechtler, Georgina Morton, S. Murko, Petra Oliva, A. Tebani, Teresa H. Y. Wu   +14 more
semanticscholar   +1 more source

FOOTNOTES : S.C. DHEC NEWBORN SCREENING NEWSLETTER [PDF]

, 2016
These publications will include helpful tips for specimen collection, submission, follow-up contact information for DHEC NBS staff, and an educational section on specific disorders found on the newborn screening ...
South Carolina Department of Health and Environmental Control
core  

Newborn screening : health impact and return on investment

In the last five decades, newborn screening has become a well-defined, nationwide prevention program. Each year, more than 4 million newborns in the United States are screened for hearing loss and certain genetic, endocrine, and metabolic disorders ...

core  

Footnotes : S.C. DHEC newborn screening newsletter [PDF]

, 2017
These publications will include helpful tips for specimen collection, submission, follow-up contact information for DHEC NBS staff, and an educational section on specific disorders found on the newborn screening ...
South Carolina Department of Health and Environmental Control
core  

45* Meconium ileus in cystic fibrosis newborn screening (CF NBS)

Journal of Cystic Fibrosis, 2011
Sands, P., Zybert, K., Mielus, M., Oltarzewski, M., Walicka, K., Piotrowski, R.   +5 more
openaire   +1 more source

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress

This article presents the report of the session on “Newborn Screening for Primary Immunodeficiencies—Now What?” organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023.
Leire Solis, Johan Prévot, James R. Bonham, Bruce Lim, Lennart Hammarström, Fabian Hauck, Frank J. T. Staal, Samya Van Coillie, Martine Pergent, Solis, L, Pergent, M, Bonham, JR, Hauck, F, Van, Coillie S, Hammarstrom, L, Lim, B, Prevot, J, Staal, FJT   +17 more
core   +1 more source

WS21.6 11 years of newborn screening (NBS): the experience in Tuscany, Italy

Journal of Cystic Fibrosis, 2012
Repetto, T., Zavataro, L., Mergni, G., Fusco, I., Vignoli, N., Pasotto, R., Pelo, E., Centrone, C., Torricelli, F., Braggion, C.   +9 more
openaire   +1 more source

The Importance Of Fact Over Opinion In Choice Of Conditions To Be Recommended For Newborn Screening (Nbs) [PDF]

Value in Health, 2014
openaire   +2 more sources

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France. [PDF]

BMJ Open
Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L.   +48 more
europepmc   +1 more source