Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chron...

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Detalles Bibliográficos
Autores principales: Eskes, Eline C. B., van der Lienden, Martijn J. C., Roelofs, Joris J. T. H., Vogt, Liffert, Aerts, Johannes M. F. G., Aten, Jan, Hollak, Carla E. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574181/
https://www.ncbi.nlm.nih.gov/pubmed/34765393
http://dx.doi.org/10.1002/jmd2.12242

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