Results 101 to 110 of about 2,136,941 (364)

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

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience

International Journal of Neonatal Screening
This study was designed to assess the effectiveness of neonatal congenital adrenal hyperplasia (CAH) screening in Guangzhou, China. A total of 818,417 newborns were screened for CAH by measuring 17-hydroxyprogesterone (17-OHP) concentrations.
Xuefang Jia, Ting Xie, Xiang Jiang, Fang Tang, Minyi Tan, Qianyu Chen, Sichi Liu, Yonglan Huang, Li Tao   +8 more
doaj   +1 more source

Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening

Journal of Inborn Errors of Metabolism and Screening, 2016
The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm.
Sara Poggiali BSc, MT, Daniela Ombrone BSc, Giulia Forni BSc, Sabrina Malvagia BSc, Silvia Funghini BSc, PhD, Massimo Mura Pharm Sc, Elisabetta Pasquini MD, Laura Santoro BSc, Vincenzo Bellavia BSc, Orazia Maria Granata BSc, Cinzia Castana MD, Kathleen S. McGreevy PhD, Tommaso Silvano Aronica MD, Giancarlo la Marca Pharm Sc   +13 more
doaj   +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  

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

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

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

Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study

The Lancet Haematology, 2020
Summary Background Sickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care ...
O. Nnodu, A. Sopekan, U. Nnebe-Agumadu, C. Ohiaeri, A. Adeniran, G. Shedul, H. Isa, O. Owolabi, R. Chianumba, Yohanna Tanko, Juliet H Iyobosa, A. Adekile, O. Olapade, F. Piel   +13 more
semanticscholar   +1 more source

Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs

, 2012
In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF).
Grosse, Scott D., Boyle, Coleen A., Wilfond, Benjamin S., Rosenfeld, Margaret, Kharrazi, Martin, Comeau, Anne Marie, Botkin, Jeffrey R.   +6 more
core  

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source