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Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency

INTRODUCTION: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B). Lyso-sphingomyelin (LSM) has previously been proposed as a biomarker for this disease. However, existing studies have not invest...

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Detalles Bibliográficos
Autores principales: Breilyn, Margo Sheck, Zhang, Wenyue, Yu, Chunli, Wasserstein, Melissa P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8274336/
https://www.ncbi.nlm.nih.gov/pubmed/34285875
http://dx.doi.org/10.1016/j.ymgmr.2021.100780