Múltiples quistes parapiélicos en la enfermedad de Fabry
Azancot, María A; Vila, Josefa; Domínguez, Carmen; Serres, Xavier; Espinel, Eugenia.
Nefrología (Madr.)
; 36(3): 310-312, mayo-jun. 2016. ilus
Artículo en Español | IBECS (España) | ID: ibc-153218
Documentos relacionados
Renal involvement in paediatric Fabry disease.
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.
Periostin in the Kidney.
Parapelvic cysts, a distinguishing feature of renal Fabry disease.
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch.
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.
Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.
Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.