Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development

Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development

Abstract Background Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest during the 2nd trimester of the foetal period. We previously reported the SMN spot...

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Main Authors: Noriko Otsuki, Tamaki Kato, Mamoru Yokomura, Mari Urano, Mari Matsuo, Emiko Kobayashi, Kazuhiro Haginoya, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Spinal muscular atrophy
Survival motor neuron
Cord blood
SMN spot analysis
Imaging flow cytometry
Disease-modifying therapy
Online Access:https://doi.org/10.1186/s13023-025-03597-4
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https://doi.org/10.1186/s13023-025-03597-4

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