Results 231 to 240 of about 1,360,274 (268)

Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD)

Molecular Genetics and Metabolism, 2018
D. Matern, D. Gavrilov, D. Oglesbee, K. Raymond, S. Tortorelli, J. Hart, Lea Mott, J. Kurtzberg, Vinod K. Prasad, P. Rinaldo   +9 more
semanticscholar   +2 more sources

Treatment for severe combined immunodeficiency (SCID) in the era of newborn screening (NBS)

The Journal of Immunology, 2017
Abstract SCID is associated with excellent survival when treated with allogeneic hematopoietic cell transplantation (HCT), gene therapy (GT), or enzyme replacement therapy (ERT) within 3–4 months of birth or prior to infection. NBS for SCID results in the diagnosis by 2–3 weeks of age.
Justin Wahlstrom, Alan Nguyen, Christopher C Dvorak, Jennifer M Puck, Morton J Cowan   +4 more
openaire   +1 more source

P.072 Alberta Spinal Muscular Atrophy Newborn Screening (SMA-NBS) – 2022 results

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2023
Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic mutations of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening and presymptomatic treatment are essential to optimize health outcomes for affected individuals.
JK Mah, TR Price, H Kolski, R Ridsdale, J Parboosingh, F Niri   +5 more
openaire   +1 more source

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

Abstract Introduction BEACONS-NBS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening) is the first research study to integrate whole genome sequencing into newborn screening (NBS) across multiple U.S. states and territorial public health laboratory programs (PHLPs).
Nina B. Gold, Britt A. Johnson, Harini Somanchi, Thomas Minten, Stephanie A. Coury, Carrie Blout Zawatsky, Amber Begtrup, Elizabeth Butler, Katherine G. Langley, Rebekah Zimmerman, Heather M. McLaughlin, Tessa Ellefson, Adriann Kern, Heidi L. Rehm, David Bick, Steven E. Brenner, Dalia Kasperaviciute, Roshini S. Abraham, Ivona Aksentijevich, Melanie Babinski, Charles J. Billington, Manish J. Butte, Scott W. Canna, Makena Caron, Yee-Ming Chan, Shanmuganathan Chandrakasan, Samuel C.C. Chiang, Ottavia M. Delmonte, Lisa R. Diller, Lilian Downie, Julie Fleischer, Anne Fulton, Rebecca D. Ganetzky, Jessica Gold, Raphaela Goldbach-Mansky, Eyal Grunebaum, Rebecca C. Hale, Ada Hamosh, Friedhelm Hildebrandt, Alexander M. Holtz, Christina Jacobsen, Matthew J. Kan, Maleewan Kitcharoensakkul, Vilmante Kodyte, Raymond J. Kreienkamp, Belinda S. Lennerz, Angela E. Lin, Adithya V. Madduri, Joseph A. Majzoub, Rebecca A. Marsh, David T. Miller, Joshua D. Milner, Deborah M. Mitchell, Brittney Murray, Luigi D. Notarangelo, Xiao P. Peng, Emily M. Place, Craig D. Platt, Sharon E. Plon, Scott R. Plotkin, Cynthia M. Powell, Jennifer M. Puck, Amy E. Roberts, Vijay G. Sankaran, Daniella M. Schwartz, Christine M. Seroogy, Shreyas Srinath, Alanna Strong, Kathleen E. Sullivan, Weizhen Tan, Teresa K. Tarrant, Jay R. Thiagarajah, Melissa A. Walker, Ari J. Wassner, Hannie Zomer Bolanos, Amy M. Gaviglio, Natasha Bonhomme, Jelili Ojodu, Sikha Singh, Guisou Zarbalian, Stacey Pereira, Aaron J. Goldenberg, Ingrid A. Holm, Melissa P. Wasserstein, Robert C. Green   +84 more
openaire   +1 more source

POSITIVE NEWBORN SCREEN (NBS) SECONDARY TO CONGENITAL CYTOMEGALOVIRUS (CMV) INFECTION

Molecular Genetics and Metabolism, 2023
Caterina Abdala Villa, Pablo Sanchez, Mari MORI   +2 more
openaire   +1 more source

Stable lung function is maintained over 2 years in newborn screened (NBS) CF infants

European Respiratory Journal, 2013
Background :Lung function in LCFC NBS CF infants was impaired by age 3-months (3m) compared to healthy controls. 1 However forced expiratory volume (FEV 0.5 ) improved by 1-year (1y) while lung clearance index (LCI) and ...
Lena Priscilla Thia, Ah-Fong Hoo, Lucy Brennan, The Thanh-Diem Nguyen, Jane Chudleigh, Angela Wade, Colin Wallis, Andrew Bush, Gary Ruiz, Caroline Pao, Janet Stocks   +10 more
openaire   +1 more source

Newborn Screening Program (NBS) for Early Detection of Sickle Cell Disease and G6PD: The Saudi Experience

Blood
Sickle Cell Disease (SCD) and Glucose-6-Phosphate Dehydrogenase (G6PD) are prevalent genetic disorders worldwide, with high frequencies in Saudi Arabia. The CDC reported that SCD affects 1 in 365 African American births while about 1 in 13 African American babies are born with sickle cell trait (SCT).
Hatoon Ezzat, Meshal Alshehri, Ibrahim Alghamdi, Fayez Alshehri, Najwa Kariri, Fayzah Albalawi, Nourah Aldoaiji, Mohammed Al Abdulaali   +7 more
openaire   +1 more source

EE471 Cost Effectiveness of Newborn Screening (NBS) for Spinal Muscular Atrophy (SMA) in England

Value in Health, 2022
D Weidlich, L Servais, I Kausar, R Howells, M Bischof   +4 more
openaire   +1 more source

Diagnostic and Therapeutic Challenges for Infants with Radiosensitive (RS)-SCID Identified by Newborn Screening (NBS)

Journal of Allergy and Clinical Immunology, 2022
David Potts, Shannon Sullivan, Melis Yilmaz, Kady Palmer, Mary Ann Miranda, Priyanka Timothy, Carla Duff, Gretchen Vaughn, Gauri Sunkersett, Deepakbabu Chellapandian, Benjamin Oshrine, Panida Sriaroon, Stanton Goldman, Morton Cowan, Jennifer Puck, Roshini Abraham, Jennifer Leiding, Jolan Walter   +17 more
openaire   +1 more source

Newborn screening (NBS) for metachromatic leukodystrophy (MLD): results from a study of 100,000 deidentified NBS samples

Molecular Genetics and Metabolism, 2017
Ross Ridsdale, Charles Kroll, Karen Sanders, Devin Olgesbee, Piero Rinaldo, John Hopwood, Fred Lorey, Michael Gelb, Kimiyo Raymond, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern   +11 more
openaire   +1 more source