Cargando…

Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene. The establishment of effective newborn screening (NBS) for SMA is important for early diagnosis so that treatment can be administered in the p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hashimoto, Kazuhiko, Yokokawa, Mari, Yamashita, Daisuke, Yuge, Kotaro, Otsubo, Yoshikazu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445771/ https://www.ncbi.nlm.nih.gov/pubmed/37621829 http://dx.doi.org/10.7759/cureus.42382

Ejemplares similares

Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry
por: Lin, Yiming, et al.
Publicado: (2019)

Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing
por: Shum, Bennett O. V., et al.
Publicado: (2023)

Spinal Muscular Atrophy Diagnosed by Newborn Screening
por: Lopez-Chacon, Matias, et al.
Publicado: (2019)

Interventions for spinal muscular atrophy: an impetus for newborn screening
Publicado: (2021)

Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy
por: Jędrzejowska, Maria
Publicado: (2020)

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
por: Kimizu, Tomokazu, et al.
Publicado: (2021)

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
por: Weidlich, Diana, et al.
Publicado: (2023)

Newborn screening for spinal muscular atrophy: The views of affected families and adults
por: Boardman, Felicity K., et al.
Publicado: (2017)

Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan
por: Lee, Tomoko, et al.
Publicado: (2021)

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
por: Hale, Jaime E., et al.
Publicado: (2021)

Newborn screening for spinal muscular atrophy in Japan: One year of experience
por: Sawada, Takaaki, et al.
Publicado: (2022)

Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
por: Boardman, Felicity K., et al.
Publicado: (2017)

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

A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
por: Gillingwater, Thomas H., et al.
Publicado: (2022)

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
por: Hale, Kshea, et al.
Publicado: (2021)

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
por: Pane, Marika, et al.
Publicado: (2022)

Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?
por: Vorster, Elana, et al.
Publicado: (2020)

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia
por: Sarv, Siiri, et al.
Publicado: (2021)

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study
por: Shinohara, Masakazu, et al.
Publicado: (2019)

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
por: Vill, Katharina, et al.
Publicado: (2021)

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
por: Noguchi, Yoriko, et al.
Publicado: (2022)

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
por: Mikhalchuk, Kristina, et al.
Publicado: (2023)

Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening—A Systematic Review
por: Aragon-Gawinska, Karolina, et al.
Publicado: (2023)

Carrier screening for spinal muscular atrophy
por: Prior, Thomas W.
Publicado: (2008)

Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia
por: Alghamdi, Alaa, et al.
Publicado: (2023)

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme
por: D'Silva, Arlene M, et al.
Publicado: (2021)

Addressing the implementation gap in advanced therapeutics for spinal muscular atrophy in the era of newborn screening programs
por: Leon-Astudillo, Carmen, et al.
Publicado: (2022)

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
por: Niri, Farshad, et al.
Publicado: (2023)

Utility of Skeletal Muscle CT in Diagnosing Spinal Muscular Atrophy Type 3 in a Patient Who Had Been Undiagnosed for 50 Years
por: Hirayama, Michihiro, et al.
Publicado: (2023)

Longitudinal developmental profile of newborns and toddlers treated for spinal muscular atrophy
por: Ngawa, Magali, et al.
Publicado: (2023)

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

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
por: Boemer, François, et al.
Publicado: (2021)

Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism
por: Cardenas, Juan, et al.
Publicado: (2021)

Exploratory evaluation of an eye-tracking system in patients with advanced spinal muscular atrophy type I receiving nusinersen
por: Yae, Yukako, et al.
Publicado: (2022)

Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
por: Xia, Yu, et al.
Publicado: (2021)

Spinal muscular atrophy
por: D'Amico, Adele, et al.
Publicado: (2011)

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)
por: Ogbonmide, Tolu, et al.
Publicado: (2023)

Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
por: Xia, Yu, et al.
Publicado: (2021)

Nusinersen for spinal muscular atrophy
por: Wurster, Claudia D., et al.
Publicado: (2018)

Spinal Muscular Atrophy and Ependymoma
por: Albakr, Aishah, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_8eaopcijrmh3sonolib0dbatls