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J Nephropathol. 2012;1(3): 152-154.
doi: 10.5812/nephropathol.8110
PMID: 24475406
PMCID: PMC3886152
Scopus ID: 84874720024
  Abstract View: 1897
  PDF Download: 1030

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Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Maria Dolores Sanchez-Niño 1, Alberto Ortiz 2 *

1 Nefrologia, IdiPAZ, Madrid, Spain.
2 Nefrologia, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid and Fundación Renal Iñigo Alvarez de Toledo, Madrid, Spain.
*Corresponding author: Prof.Alberto Ortiz,Unidad de Diálisis ,Fundación Jiménez Díaz.Avd. Reyes Católicos 2, 28040 Madrid, España. Fax: +34 915 442636. aortiz@fjd.es
Keywords: Fabry disease, Kidney disease, Mutation, Fabry nephropathy

Implication for health policy/practice/research/medical education:

Fabry disease is caused by a deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X chromosome GLA gene. The enzymatic defect causes intracellular accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (GL-3), as well as increased circulating levels of globotriaosylsphingosine (Lyso-GL-3).

Please cite this paper as: Sánchez-Niño MD, Ortiz A. Is it or is it not a pathogenic mutation? Is it or is it not the podocyte? J Nephropathology. 2012; 1(3): 152-154. DOI: 10.5812/nephropathol.8110

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ePublished: 01 Oct 2012
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