Results 71 to 80 of about 1,407,914 (310)

CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy

International Journal of Neonatal Screening
Spinal muscular atrophy (SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage.
Francis K. Lee, Christopher Greene, Kristina Mercer, Jennifer Taylor, Golriz Yazdanpanah, Robert Vogt, Rachel Lee, Carla Cuthbert, Suzanne Cordovado   +8 more
doaj   +1 more source

A practical guide to Newborn Bloodspot Screening in Ireland [PDF]

, 2011
The newborn screening programme for phenylketonuria was started in Ireland the Children’s University Hospital, Temple Street in February 1966. The Irish programme was one of the first national programmes in the world. All babies born on or after 1st July
National Newborn Bloodspot Screening Laboratory Children’s University Hospital Temple Street, Dublin, Health Service Executive (HSE)   +1 more
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Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Charter of the Kansas Advisory Council on Newborn Screening. [2011]

, 2011
"Effective Date: May 15, 2008. Revision Date: August 18, 2011.""The Kansas Advisory Council on Newborn Screening (KACNS, sometimes referred to as “KACNS” or the “Council”) was established under amendments to KSA 65-180 in 2007 by the ...
Kansas Advisory Council on Newborn Screening.
core   +1 more source

Cystic fibrosis fact sheet

, 2006
This archived document is maintained by the Oregon State Library as part of the Oregon Documents Depository Program. It is for informational purposes and may not be suitable for legal purposes.Title from PDF caption (viewed on Jan.

core  

Sweat testing infants detected by cystic fibrosis newborn screening

, 2012
OBJECTIVE: Describe and define limitations of early pilocarpine iontophoresis (sweat testing) for cystic fibrosis (CF) newborn screening (NBS). STUDY DESIGN: Population-based results from follow-up of CF NBS-positive newborns.
Dorkin, Henry L., Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Dovey, Mark, Comeau, Anne Marie, Martin, Thomas   +6 more
core   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows

International Journal of Neonatal Screening
The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS
Katherine Raboin, Debra Ellis, Ginger Nichols, Marcia Hughes, Michael Brimacombe, Karen Rubin   +5 more
doaj   +1 more source

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program

, 2013
OBJECTIVE: The objective of this study is to develop an isotope dilution liquid chromatography tandem mass spectrometry assay to screen for hepatorenal tyrosinemia (HT) from newborn filter paper samples using pooled extracts to increase high throughput ...
Odewale, Adedoyin, Fitzgerald, Eileen F., Johnson, Donna M., Zytkovicz, Thomas H., Sahai, Inderneel, Rush, Amii, Britton, Deborah, Eaton, Roger B.   +7 more
core   +1 more source