Cargando…

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hale, Jaime E., Darras, Basil T., Swoboda, Kathryn J., Estrella, Elicia, Chen, Jin Yun Helen, Abbott, Mary-Alice, Hay, Beverly N., Kumar, Binod, Counihan, Anne M., Gerstel-Thompson, Jacalyn, Sahai, Inderneel, Eaton, Roger B., Comeau, Anne Marie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162354/ https://www.ncbi.nlm.nih.gov/pubmed/34071063 http://dx.doi.org/10.3390/ijns7020026

Ejemplares similares

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
por: Velilla, Jose, et al.
Publicado: (2019)

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number
por: Kumar, Binod, et al.
Publicado: (2021)

Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy
por: Yeo, Crystal Jing Jing, et al.
Publicado: (2020)

Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey
por: Glovsky, Cheryl K., et al.
Publicado: (2022)

The impact of COVID‐19 on statewide EMS use for cardiac emergencies and stroke in Massachusetts
por: Goldberg, Scott A., et al.
Publicado: (2021)

Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients
por: Yeo, Crystal J. J., et al.
Publicado: (2022)

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check
por: Kucera, Katerina S., et al.
Publicado: (2021)

Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope
por: Darras, Basil T., et al.
Publicado: (2018)

Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future
por: McGrattan, Katlyn Elizabeth, et al.
Publicado: (2021)

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy
por: Chiriboga, Claudia A., et al.
Publicado: (2016)

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive
por: Rani, Swati, et al.
Publicado: (2023)

Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
por: Mouchet, Julie, et al.
Publicado: (2023)

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
por: Glascock, Jacqueline, et al.
Publicado: (2023)

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
por: Glascock, Jacqueline, et al.
Publicado: (2018)

Systemic nature of spinal muscular atrophy revealed by studying insurance claims
por: Lipnick, Scott L., et al.
Publicado: (2019)

LGMD2I in a North American population
por: Kang, Peter B, et al.
Publicado: (2007)

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
por: Kobayashi, Dione T., et al.
Publicado: (2013)

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes
por: Bennett, Richard R, et al.
Publicado: (2009)

Trends in Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Seroprevalence in Massachusetts Estimated from Newborn Screening Specimens
por: Ma, Kevin C, et al.
Publicado: (2022)

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies
por: Darras, Basil T., et al.
Publicado: (2019)

Nusinersen Treatment in Adults With Spinal Muscular Atrophy
por: Duong, Tina, et al.
Publicado: (2021)

Neurofilament as a potential biomarker for spinal muscular atrophy
por: Darras, Basil T., et al.
Publicado: (2019)

Developmental milestones in type I spinal muscular atrophy
por: De Sanctis, Roberto, et al.
Publicado: (2016)

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
por: Darras, Basil T., et al.
Publicado: (2019)

Longitudinal natural history of type I spinal muscular atrophy: a critical review
por: Mercuri, Eugenio, et al.
Publicado: (2020)

Private provider participation in statewide immunization registries
por: Clark, Sarah J, et al.
Publicado: (2006)

Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States
por: Darras, Basil T., et al.
Publicado: (2022)

Emerging therapies and challenges in spinal muscular atrophy
por: Farrar, Michelle A., et al.
Publicado: (2017)

Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
por: Cances, Claude, et al.
Publicado: (2022)

Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
por: Dunaway Young, Sally, et al.
Publicado: (2023)

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
por: Glascock, Jacqueline, et al.
Publicado: (2020)

Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy
por: Montes, Jacqueline, et al.
Publicado: (2019)

Massachusetts
Publicado: (1896)

Massachusetts
por: Rogers, Howard P.
Publicado: (1896)

Massachusetts
Publicado: (1896)

Massachusetts
Publicado: (1896)

Massachusetts
por: Lewis, H. S.
Publicado: (1899)

Massachusetts
Publicado: (1896)

Massachusetts
Publicado: (1896)

Massachusetts
Publicado: (1896)

Cannot write session to /tmp/vufind_sessions/sess_d19scm22tkhsf010i4ibutfkpf