Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots

BACKGROUND: Lysosomal acid lipase deficiency (LAL-D) is a phenotypic continuum between the severe Wolman disease and the attenuated cholesteryl ester storage disease (CESD). OBJECTIVE: To study if the amount of residual LAL enzymatic activity in dried blood spots (DBS) correlates with the LAL-D dise...

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Detalles Bibliográficos
Autores principales: Hong, Xinying, Chen, Yicheng, Barr, Marianne, Gelb, Michael H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664517/
https://www.ncbi.nlm.nih.gov/pubmed/36393897
http://dx.doi.org/10.1016/j.ymgmr.2022.100935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664517/
https://www.ncbi.nlm.nih.gov/pubmed/36393897
http://dx.doi.org/10.1016/j.ymgmr.2022.100935

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