Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study-
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference35 articles.
1. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review;Verhaart;Orphanet J Rare Dis,2017
2. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995
3. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases;Calucho;Neuromuscul Disord,2018
4. Spinal muscular atrophy: diagnosis and management in a new therapeutic era;Arnold;Muscle Nerve,2015
5. Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance;Keinath;Appl Clin Genet,2021
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1. A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay;PLOS ONE;2024-08-01
2. Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy;International Journal of Neonatal Screening;2024-07-15
3. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23
4. Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years;Genes;2024-02-28
5. Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan;Genes;2023-12-14
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