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10. Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years. Kimizu T; Nozaki M; Okada Y; Sawada A; Morisaki M; Fujita H; Irie A; Matsuda K; Hasegawa Y; Nishi E; Okamoto N; Kawai M; Imai K; Suzuki Y; Wada K; Mitsuda N; Ida S Genes (Basel); 2024 Feb; 15(3):. PubMed ID: 38540372 [TBL] [Abstract][Full Text] [Related]
11. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. Vidal-Folch N; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Oglesbee D Clin Chem; 2018 Dec; 64(12):1753-1761. PubMed ID: 30352867 [TBL] [Abstract][Full Text] [Related]
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13. Newborn screening for spinal muscular atrophy in Japan: One year of experience. Sawada T; Kido J; Sugawara K; Yoshida S; Ozasa S; Nomura K; Okada K; Fujiyama N; Nakamura K Mol Genet Metab Rep; 2022 Sep; 32():100908. PubMed ID: 35942129 [TBL] [Abstract][Full Text] [Related]
14. Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report. Hashimoto K; Yokokawa M; Yamashita D; Yuge K; Otsubo Y Cureus; 2023 Jul; 15(7):e42382. PubMed ID: 37621829 [TBL] [Abstract][Full Text] [Related]
15. Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? Müller-Felber W; Vill K; Schwartz O; Gläser D; Nennstiel U; Wirth B; Burggraf S; Röschinger W; Becker M; Durner J; Eggermann K; Müller C; Hannibal I; Olgemöller B; Schara U; Blaschek A; Kölbel H J Neuromuscul Dis; 2020; 7(2):109-117. PubMed ID: 32144995 [TBL] [Abstract][Full Text] [Related]
16. Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project. Niri F; Nicholls J; Baptista Wyatt K; Walker C; Price T; Kelln R; Hume S; Parboosingh J; Lilley M; Kolski H; Ridsdale R; Muranyi A; Mah JK; Bulman DE Int J Neonatal Screen; 2023 Jul; 9(3):. PubMed ID: 37606479 [TBL] [Abstract][Full Text] [Related]
17. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M Kobe J Med Sci; 2019 Jul; 65(2):E44-E48. PubMed ID: 31956255 [TBL] [Abstract][Full Text] [Related]
18. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Vill K; Schwartz O; Blaschek A; Gläser D; Nennstiel U; Wirth B; Burggraf S; Röschinger W; Becker M; Czibere L; Durner J; Eggermann K; Olgemöller B; Harms E; Schara U; Kölbel H; Müller-Felber W Orphanet J Rare Dis; 2021 Mar; 16(1):153. PubMed ID: 33789695 [TBL] [Abstract][Full Text] [Related]
19. Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. Tan CA; Westbrook MJ; Truty R; Kvitek DJ; Kennemer M; Winder TL; Shieh PB Genet Test Mol Biomarkers; 2020 Oct; 24(10):616-624. PubMed ID: 32721234 [No Abstract] [Full Text] [Related]
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