Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BACKGROUND: Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). Fabry dis...

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Detalles Bibliográficos
Autores principales: Pinto e Vairo, Filippo, Pichurin, Pavel N., Fervenza, Fernando C., Nasr, Samih H., Mills, Kevin, Schmitz, Christopher T., Klee, Eric W., Herrmann, Sandra M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424659/
https://www.ncbi.nlm.nih.gov/pubmed/32791958
http://dx.doi.org/10.1186/s12882-020-02012-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7424659/
https://www.ncbi.nlm.nih.gov/pubmed/32791958
http://dx.doi.org/10.1186/s12882-020-02012-3

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